age of onset

Summary

Summary: The age or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.

Top Publications

  1. ncbi Variation in FTO contributes to childhood obesity and severe adult obesity
    Christian Dina
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    Nat Genet 39:724-6. 2007
  2. ncbi Age of onset in chronic major depression: relation to demographic and clinical variables, family history, and treatment response
    D N Klein
    Department of Psychology, State University of New York at Stony Brook, NY 11794 2500, USA
    J Affect Disord 55:149-57. 1999
  3. ncbi Role of genes and environments for explaining Alzheimer disease
    Margaret Gatz
    Department of Psychology, University of Southern California, Los Angeles 90089 1061, USA
    Arch Gen Psychiatry 63:168-74. 2006
  4. ncbi Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication
    Ronald C Kessler
    Department of Health Care Policy, Harvard Medical School, Boston, Massachusetts 02115, USA
    Arch Gen Psychiatry 62:593-602. 2005
  5. ncbi Association between early-onset Parkinson's disease and mutations in the parkin gene
    C B Lücking
    INSERM Unité 289, Hopital de la Salpetriere, Paris
    N Engl J Med 342:1560-7. 2000
  6. ncbi The prevalence of frontotemporal dementia
    E Ratnavalli
    Department of Neurology, Addenbrooke s Hospital, University of Cambridge, 15 Chaucer Road, Cambridge CB2 2EF, UK
    Neurology 58:1615-21. 2002
  7. ncbi A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease
    Keith D Coon
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Ariz 85004, USA
    J Clin Psychiatry 68:613-8. 2007
  8. ncbi Long-term mortality in a nationwide cohort of childhood-onset type 1 diabetic patients in Norway
    T Skrivarhaug
    Department of Pediatrics, Ulleval University Hospital, N 0407 Oslo, Norway
    Diabetologia 49:298-305. 2006
  9. ncbi A randomized study of alglucosidase alfa in late-onset Pompe's disease
    Ans T Van der Ploeg
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    N Engl J Med 362:1396-406. 2010
  10. pmc Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity
    Matthew N Meriggioli
    Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA
    Lancet Neurol 8:475-90. 2009

Detail Information

Publications334 found, 100 shown here

  1. ncbi Variation in FTO contributes to childhood obesity and severe adult obesity
    Christian Dina
    CNRS 8090 Institute of Biology, Pasteur Institute, Lille, France
    Nat Genet 39:724-6. 2007
    ..The at-risk haplotype yields a proportion of attributable risk of 22% for common obesity. We conclude that FTO contributes to human obesity and hence may be a target for subsequent functional analyses...
  2. ncbi Age of onset in chronic major depression: relation to demographic and clinical variables, family history, and treatment response
    D N Klein
    Department of Psychology, State University of New York at Stony Brook, NY 11794 2500, USA
    J Affect Disord 55:149-57. 1999
    ..The clinical and etiological significance of the early-late onset distinction in chronic major depressive disorder was explored...
  3. ncbi Role of genes and environments for explaining Alzheimer disease
    Margaret Gatz
    Department of Psychology, University of Southern California, Los Angeles 90089 1061, USA
    Arch Gen Psychiatry 63:168-74. 2006
    ..Twin studies using selected samples have shown high heritability for Alzheimer disease (AD)...
  4. ncbi Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication
    Ronald C Kessler
    Department of Health Care Policy, Harvard Medical School, Boston, Massachusetts 02115, USA
    Arch Gen Psychiatry 62:593-602. 2005
    Little is known about lifetime prevalence or age of onset of DSM-IV disorders.
  5. ncbi Association between early-onset Parkinson's disease and mutations in the parkin gene
    C B Lücking
    INSERM Unité 289, Hopital de la Salpetriere, Paris
    N Engl J Med 342:1560-7. 2000
    ..Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients...
  6. ncbi The prevalence of frontotemporal dementia
    E Ratnavalli
    Department of Neurology, Addenbrooke s Hospital, University of Cambridge, 15 Chaucer Road, Cambridge CB2 2EF, UK
    Neurology 58:1615-21. 2002
    ..To estimate the prevalence of frontotemporal dementia (FTD) and other degenerative early-onset dementias in a geographically defined population...
  7. ncbi A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease
    Keith D Coon
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Ariz 85004, USA
    J Clin Psychiatry 68:613-8. 2007
    ....
  8. ncbi Long-term mortality in a nationwide cohort of childhood-onset type 1 diabetic patients in Norway
    T Skrivarhaug
    Department of Pediatrics, Ulleval University Hospital, N 0407 Oslo, Norway
    Diabetologia 49:298-305. 2006
    ..We examined long-term total and cause-specific mortality in a nationwide, population-based Norwegian cohort of patients with childhood-onset type 1 diabetes...
  9. ncbi A randomized study of alglucosidase alfa in late-onset Pompe's disease
    Ans T Van der Ploeg
    Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    N Engl J Med 362:1396-406. 2010
    ..We conducted a randomized, placebo-controlled trial of alglucosidase alfa, a recombinant human GAA, for the treatment of late-onset Pompe's disease...
  10. pmc Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity
    Matthew N Meriggioli
    Department of Neurology and Rehabilitation, College of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA
    Lancet Neurol 8:475-90. 2009
    ..In this Review, we provide current information about the epidemiology, immunopathogenesis, clinical presentations, diagnosis, and treatment of MG, including emerging therapeutic strategies...
  11. ncbi Maturity-onset diabetes of the young (MODY): how many cases are we missing?
    B M Shields
    Peninsula Medical School, University of Exeter, Exeter, UK
    Diabetologia 53:2504-8. 2010
    ..We aimed to compare the regional distribution of confirmed MODY cases in the UK and to estimate the minimum prevalence...
  12. ncbi Relationship of childhood obesity to coronary heart disease risk factors in adulthood: the Bogalusa Heart Study
    D S Freedman
    Division of Nutrition and Physical Activity, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Pediatrics 108:712-8. 2001
    ..However, the importance of the age at which obesity develops in these associations remains uncertain...
  13. pmc Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease
    Minerva M Carrasquillo
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
    Nat Genet 41:192-8. 2009
    ..0 x 10(-7)) and 1.26 (95% CI = 1.05-1.51) for female heterozygotes (P = 0.01) compared to female noncarriers. For male hemizygotes (P = 0.07) compared to male noncarriers, the odds ratio was 1.18 (95% CI = 0.99-1.41)...
  14. ncbi APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
    Kristel Sleegers
    Neurodegenerative Brain Diseases Group Antwerp, Belgium
    Brain 129:2977-83. 2006
    ..Our findings corroborated a recent French study, and indicated that investigating genomic duplications in the APP locus in families segregating Alzheimer's disease and CAA should be considered...
  15. pmc CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
    J M Lee
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
    Neurology 78:690-5. 2012
    ....
  16. pmc Genome-wide association study confirms extant PD risk loci among the Dutch
    Javier Simon-Sanchez
    Department of Clinical Genetics, Section of Medical Genomics, VU University Medical Centre, Amsterdam, The Netherlands
    Eur J Hum Genet 19:655-61. 2011
    ..22 × 10(-4), OR = 1.51; HLA, rs4248166: P = 4.39 × 10(-5), OR = 1.36; and MAPT, rs3785880: P = 1.9 × 10(-3), OR = 1.19)...
  17. ncbi A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans
    Gareth L Bond
    Cancer Institute of New Jersey, University of Medicine and Dentistry of New Jersey, New Brunswick, NJ 08903, USA
    Cell 119:591-602. 2004
    ..In humans, SNP309 is shown to associate with accelerated tumor formation in both hereditary and sporadic cancers. A model is proposed whereby SNP309 serves as a rate-limiting event in carcinogenesis...
  18. ncbi DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
    I Castaldo
    Department of Cellular and Molecular Biology and Pathology, University of Naples Federico II, Via Pansini 5, 80131, Naples, Italy
    J Med Genet 45:808-12. 2008
    ..It is known that the length of GAA is directly correlated with disease severity. The effect of mutation is a severe reduction of mRNA. Recently, a link among aberrant CpG methylation, chromatin organisation and GAA repeat was proposed...
  19. pmc HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families
    Henry Erlich
    Roche Molecular Systems, 1145 Atlantic Ave, Alameda, CA 94501, USA
    Diabetes 57:1084-92. 2008
    ..The aim of this study is to estimate the risk conferred by specific DR-DQ haplotypes and genotypes...
  20. pmc Major depressive disorder with subthreshold bipolarity in the National Comorbidity Survey Replication
    Jules Angst
    Department of Psychiatry, Zurich University Psychiatric Hospital, Zurich, Switzerland
    Am J Psychiatry 167:1194-201. 2010
    ..The authors examined the prevalence and clinical correlates of major depressive disorder with subthreshold bipolarity compared with pure major depressive disorder in the National Comorbidity Survey Replication (NCS-R)...
  21. pmc Genome-wide analysis of genetic loci associated with Alzheimer disease
    Sudha Seshadri
    Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA
    JAMA 303:1832-40. 2010
    ..Genome-wide association studies (GWAS) have recently identified CLU, PICALM, and CR1 as novel genes for late-onset Alzheimer disease (AD)...
  22. ncbi The adult form of Niemann-Pick disease type C
    Mathieu Sévin
    Assistance Publique Hopitaux de Paris, Fédération des Maladies du Système Nerveux, Paris, France
    Brain 130:120-33. 2007
    ....
  23. pmc Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
    A I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 69:198-203. 2001
    ..Our findings suggest that CRB1 mutations are a frequent cause of LCA and are strongly associated with the development of Coats-like exudative vasculopathy in patients with RP...
  24. ncbi The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
    Gregory M Pastores
    NYU School of Medicine, New York, NY 10016, USA
    Mol Genet Metab 91:37-47. 2007
    ....
  25. pmc Age of onset of mental disorders: a review of recent literature
    Ronald C Kessler
    Department of Healthcare Policy, Harvard Medical School, Boston, MA 02115, USA
    Curr Opin Psychiatry 20:359-64. 2007
    ..The aim of this article is to review recent epidemiological research on age-of-onset of mental disorders, focusing on the WHO World Mental Health surveys...
  26. ncbi The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA
    Nat Genet 17:40-8. 1997
    ..This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases...
  27. ncbi Is sex important? Gender differences in bipolar disorder
    Arianna Diflorio
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff University, Heath Park, Cardiff, UK
    Int Rev Psychiatry 22:437-52. 2010
    ..Unsurprisingly, however, perhaps the major distinction between men and women with bipolar disorder is the impact that reproductive life events, particularly childbirth, have on women with this diagnosis...
  28. ncbi A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
    D R Langbehn
    Department of Psychiatry, University of Iowa College of Medicine, Iowa City, IA, USA
    Clin Genet 65:267-77. 2004
    ..This model also defines the variability in HD onset that is not attributable to CAG length and provides information concerning CAG-related penetrance rates...
  29. ncbi A common variant at chromosome 9P21.3 is associated with age of onset of coronary disease but not subsequent mortality
    Katrina L Ellis
    Christchurch Cardioendocrine Research Group, Department of Medicine, University of Otago Christchurch, Christchurch, New Zealand
    Circ Cardiovasc Genet 3:286-93. 2010
    ..However, the effect of rs1333049 on clinical outcomes in patients with established coronary disease has yet to be determined...
  30. pmc A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies
    Tammaryn Lashley
    Queen Square Brain Bank, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Brain 134:2548-64. 2011
    ..In this cohort, the age of onset was variable but included cases of young-onset disease...
  31. ncbi Factors associated with age of onset and type of menopause in a cohort of UK women
    Alida J Pokoradi
    Centre of Academic Primary Care, University of Aberdeen, Aberdeen, Scotland, United Kingdom
    Am J Obstet Gynecol 205:34.e1-13. 2011
    ..We sought to describe the pattern of age at menopause and factors associated with type of menopause...
  32. pmc Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset
    Eliana Marisa Ramos
    Center for Human Genetic Research, Massachusetts General Hospital, Simches Research Building, Room 5414, 185 Cambridge Street, Boston, MA 02114, USA
    Hum Genet 131:1833-40. 2012
    ..A significantly older AO in Southern Europe may reflect population differences in genetic or environmental factors that warrant further investigation...
  33. pmc The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
    Ekaterina Rogaeva
    Centre for Research in Neurodegenerative Diseases, Department of Medicine, Department, University of Toronto, Toronto, Ontario, Canada
    Nat Genet 39:168-77. 2007
    ..These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease...
  34. ncbi Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
    Mary Claire King
    Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 302:643-6. 2003
    ..Lifetime risks of ovarian cancer were 54% for BRCA1 and 23% for BRCA2 mutation carriers. Physical exercise and lack of obesity in adolescence were associated with significantly delayed breast cancer onset...
  35. ncbi The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    D Altshuler
    Whitehead Institute MIT Center for Genome Research, Cambridge, Massachusetts, USA
    Nat Genet 26:76-80. 2000
    ..Because the risk allele occurs at such high frequency, its modest effect translates into a large population attributable risk-influencing as much as 25% of type 2 diabetes in the general population...
  36. ncbi Age and causes of death in adult-onset myotonic dystrophy
    C E de Die-Smulders
    Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands
    Brain 121:1557-63. 1998
    ..Half of the patients studied were either partially or totally wheelchair-bound shortly before their death...
  37. ncbi Age at disease onset and diagnosis delay in HLA-B27 negative vs. positive patients with ankylosing spondylitis
    Ernst Feldtkeller
    Ankylosing Spondylitis International Federation, Michaeliburgstrasse 15, 81671 Munich, Germany
    Rheumatol Int 23:61-6. 2003
    ..To investigate differences between HLA-B27(-) and HLA-B27(+) patients with ankylosing spondylitis (AS)...
  38. ncbi Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma
    Carmen S P Lima
    Department of Internal Medicine, Faculty of Medical Sciences, State University of Campinas, Campinas, Sao Paulo, CP 6111, 13083 970, Brazil
    Int J Colorectal Dis 22:757-63. 2007
    ..The methylenetetrahydrofolate reductase (MTHFR) gene, involved in folate metabolism, is polymorphic in humans. Since it is unknown whether the MTHFR C677T and A1298C polymorphisms alter the risk for CRC, this was the aim of our study...
  39. ncbi Apolipoprotein E epsilon4 count affects age at onset of Alzheimer disease, but not lifetime susceptibility: The Cache County Study
    Ara S Khachaturian
    Khachaturian and Associates Inc, Potomac, MD, USA
    Arch Gen Psychiatry 61:518-24. 2004
    ..APOE is a strong genetic risk factor for AD...
  40. pmc Effects of young age at presentation on survival in breast cancer
    Nagi S El Saghir
    Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
    BMC Cancer 6:194. 2006
    ..Debate includes patients from different parts of the world. Almost 50% of patients with breast cancer seen at the American University of Beirut Medical Center (AUBMC) are below age 50...
  41. ncbi Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
    David Meyre
    CNRS 8090 Institute of Biology, Pasteur Institute, 59000 Lille, France
    Nat Genet 41:157-9. 2009
    ..9 x 10(-7)), near MAF (encoding the transcription factor c-MAF, P = 3.8 x 10(-13)) and near PTER (phosphotriesterase-related gene, P = 2.1 x 10(-7))...
  42. ncbi Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
    I Le Ber
    CRicm UMRS975 formerly INSERM, UMR_S679, France
    Neurology 72:1669-76. 2009
    ..No major gene has been identified but a locus was mapped on chromosome 9 (9p21.3-p13.3)...
  43. ncbi Gender differences in schizophrenia
    H Hafner
    Schizophrenia Research Unit, Central Institute of Mental Health, J5, 68159 Mannheim, Germany
    Psychoneuroendocrinology 28:17-54. 2003
    ..Scarcity of the knowledge of differences in the development, morphology and functioning of the male and female brain does not yet allow any definitive conclusions about gender differences in schizophrenia...
  44. pmc The role of interruptions in polyQ in the pathology of SCA1
    Rajesh P Menon
    MRC NIMR, London, United Kingdom
    PLoS Genet 9:e1003648. 2013
    ..Our study contributes to the understanding of the role of polyQ interruption in the SCA1 phenotype with regards to age at disease onset, prognosis and transmission. ..
  45. ncbi Association between Aurora-A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population
    Jinyun Chen
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    Mol Carcinog 46:249-56. 2007
    ..We studied the influence of these two polymorphisms on age of onset of hereditary nonpolyposis colorectal cancer (HNPCC)...
  46. ncbi Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study
    Stefan Kruger
    Department of Surgical Research, Dresden University of Technology, Dresden, Germany
    Lancet Oncol 6:566-72. 2005
    ..In view of the association between the age of onset of hereditary non-polyposis colorectal cancer and functionally different variants of P53, which play a key part ..
  47. ncbi Oncogenic virus-associated neoplasia: a role for cyclin D1 genotypes influencing the age of onset of disease?
    R Catarino
    Molecular Oncology Group and Virology Laboratory, Portuguese Institute of Oncology, Porto, Portugal
    Biochem Biophys Res Commun 370:118-22. 2008
    ..The purpose of our study was to assess the role of CCND1 genotypes influencing the age of onset of oncogenic virus-associated neoplasia...
  48. pmc Lifetime and 12-month prevalence of bipolar spectrum disorder in the National Comorbidity Survey replication
    Kathleen R Merikangas
    Intramural Research Program, Section on Developmental Genetic Epidemiology, National Institute of Mental Health, Bethesda, MD 20892, USA
    Arch Gen Psychiatry 64:543-52. 2007
    ..There is growing recognition that bipolar disorder (BPD) has a spectrum of expression that is substantially more common than the 1% BP-I prevalence traditionally found in population surveys...
  49. ncbi An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
    Claire Troakes
    King s College London, MRC Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, De Crespigny Park, London, UK
    Neuropathology 32:505-14. 2012
    ..We conclude that these chromosome 9-linked MND/ALS cases represent a pathological sub-group with abundant p62 pathology in the cerebral cortex, hippocampus and cerebellum but with no significant associated cognitive decline...
  50. ncbi Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
    Wouter van Rheenen
    Department of Neurology, Rudolph Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht
    Neurology 79:878-82. 2012
    ....
  51. pmc Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome
    Sheila Santin
    Fundacio Puigvert, Cartagena 340 350, 08025 Barcelona, Spain
    Clin J Am Soc Nephrol 6:344-54. 2011
    ..To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation...
  52. pmc Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
    R Saunders-Pullman
    Department of Neurology, Beth Israel Medical Center, New York, NY, USA
    Neurology 78:649-57. 2012
    ..To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research...
  53. pmc The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study
    Jean Charles Lambert
    Unité INSERM 744, Institut Pasteur de Lille BP 245, 1, rue du Professeur Calmette, F59019Lille cedex, France
    J Alzheimers Dis 22:247-55. 2010
    ..Our results indicate that the CALHM1 P86L polymorphism is likely not a genetic determinant of AD but may modulate age of onset by interacting with the effect of the ε4 allele of the APOE gene.
  54. ncbi Paracetamol and antibiotics in childhood and subsequent development of wheezing/asthma: association or causation?
    Franca Rusconi
    Unit of Epidemiology, Anna Meyer Children s University Hospital, Florence, Italy
    Int J Epidemiol 40:662-7. 2011
    ....
  55. pmc Charcot-Marie-Tooth disease subtypes and genetic testing strategies
    Anita S D Saporta
    Department of Neurology, Wayne State University, Detroit, MI, USA
    Ann Neurol 69:22-33. 2011
    ..Identifying the genetic cause of CMT is often necessary for family planning, natural history studies, and for entry into clinical trials. However genetic testing can be both expensive and confusing to patients and physicians...
  56. pmc Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
    Helen Swalwell
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK
    Eur J Hum Genet 19:769-75. 2011
    ..In the absence of parental consanguinity, we recommend whole mitochondrial genome sequencing as a key approach to elucidate the underlying molecular genetic abnormality...
  57. pmc The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes
    B M Shields
    Peninsula NIHR Clinical Research Facility, Peninsula Medical School, University of Exeter, Barrack Road, Exeter EX2 5DW, UK
    Diabetologia 55:1265-72. 2012
    ..We aimed to use multiple, weighted, clinical criteria to determine an individual's probability of having MODY, as a crucial tool for rational genetic testing...
  58. pmc Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds
    R J Scott
    Discipline of Medical Genetics, Hunter Area Pathology Service, John Hunter Hospital, New Lambton, New South Wales, Australia
    Am J Hum Genet 68:118-127. 2001
    ....
  59. ncbi Genes of early-onset epileptic encephalopathies: from genotype to phenotype
    Mario Mastrangelo
    Division of Child Neurology, Department of Pediatrics, Child Neurology, and Psychiatry, Sapienza University of Rome, Rome, Italy
    Pediatr Neurol 46:24-31. 2012
    ....
  60. pmc Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
    Alejandro Estrada-Cuzcano
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 90:102-9. 2012
    ..The two CRD siblings with the c.156-2A>G mutation also showed unilateral postaxial polydactyly. These results underline the importance of disrupted ciliary processes in the pathogenesis of retinal dystrophies...
  61. pmc Age of onset of schizophrenia: perspectives from structural neuroimaging studies
    Nitin Gogtay
    Child Psychiatry Branch, National Institute of Mental Health, NIH, Bethesda, MD, USA
    Schizophr Bull 37:504-13. 2011
    Many of the major neuropsychiatric illnesses, including schizophrenia, have a typical age of onset in late adolescence...
  62. ncbi The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease
    Jiří Klempíř
    Department of Neurology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
    Mov Disord 26:125-9. 2011
    ..We hypothesized that in patients with identical number of CAG repeats within the mutant allele, the age of onset of HD is influenced by the number of CAG repeats within the normal allele...
  63. ncbi Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification
    Arie Levine
    Wolfson Medical Center, Tel Aviv University, Israel
    Inflamm Bowel Dis 17:1314-21. 2011
    ..The dynamic features of pediatric disease phenotype (change in disease location and behavior over time, growth failure) are not sufficiently captured by the current Montreal Classification...
  64. pmc Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
    Elena Sieni
    Department of Pediatric Hematology and Oncology, Azienda Ospedaliero Universitaria Meyer, Florence, Italy
    J Med Genet 48:343-52. 2011
    ..Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898)...
  65. ncbi The genetics of panic disorder
    Johannes Schumacher
    Institute of Human Genetics, University of Bonn, Germany
    J Med Genet 48:361-8. 2011
    ..Here, the authors summarise the latest genetics findings about PD, and give an overview of anticipated future developments...
  66. ncbi Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
    Maria I Behrens
    Departamento de Neurologia y Neurocirugia, Hospital Clinico Universidad de Chile, Santiago, Chile
    Mov Disord 25:1929-37. 2010
    ..The marked caudate and lenticular nucleus T2*-hypointensity suggests that KRS might belong to the family of neurodegenerative diseases associated with brain iron accumulation...
  67. pmc Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
    Colin J Mahoney
    Dementia Research Centre, Department of Neurodegenerative Diseases, UCL Institute of Neurology, London WC1N 3BG, UK
    Brain 135:736-50. 2012
    ....
  68. ncbi Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity
    Fernando Morales
    Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK
    Hum Mol Genet 21:3558-67. 2012
    ..These data reveal that the estimated progenitor allele length is the major modifier of age of onset. We find no evidence for a threshold above which repeat length does not contribute toward age at onset, ..
  69. pmc Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content
    Colm E Nestor
    Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom
    PLoS ONE 6:e28260. 2011
    ....
  70. ncbi Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II
    Bruno Bembi
    Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy
    J Inherit Metab Dis 33:727-35. 2010
    ..Long-term follow-up studies are not available at present. The aim of this study was to evaluate the ERT long-term effects in late-onset GSDII...
  71. pmc Second malignant neoplasms and cardiovascular disease following radiotherapy
    Lois B Travis
    Rubin Center for Cancer Survivorship and Department of Radiation Oncology, James P Wilmot Cancer Center, University of Rochester Medical Center, 265 Crittenden Blvd, CU 420318, Rochester, NY 14642, USA
    J Natl Cancer Inst 104:357-70. 2012
    ....
  72. ncbi Type 1 diabetes in Yorkshire, UK: time trends in 0-14 and 15-29-year-olds, age at onset and age-period-cohort modelling
    R G Feltbower
    Paediatric Epidemiology Group, Unit of Epidemiology and Health Services Research, and The General Infirmary at Leeds, Leeds, UK
    Diabet Med 20:437-41. 2003
    ..To investigate whether the rising incidence of Type 1 diabetes in children is evident in young adults and determine whether age at onset has decreased over time...
  73. pmc Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
    Janet A Thomas
    University of Colorado, Denver, CO, USA
    J Inherit Metab Dis 33:421-7. 2010
    ..Given the availability of etiologic treatment, prompt diagnosis is important...
  74. ncbi Permanent bilateral sensory and neural hearing loss of children after neonatal intensive care because of extreme prematurity: a thirty-year study
    Charlene M T Robertson
    Section of Neurosciences, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Canada
    Pediatrics 123:e797-807. 2009
    ..We present population-based, childhood prevalence rates of and neonatal risk factors for permanent hearing loss among extremely premature infants...
  75. ncbi Establishing the sequential progression of multiple allergic diagnoses in a UK birth cohort using the General Practice Research Database
    Y S Punekar
    Schering Plough Ltd, Welwyn Garden City, UK
    Clin Exp Allergy 39:1889-95. 2009
    ..There is considerable international interest in understanding the sequential progression of multiple allergic conditions (also sometimes known as 'the allergic march')...
  76. ncbi A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy
    Sabrina W Yum
    Section of Neurology, St Christopher s Hospital For Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
    Ann Neurol 66:759-70. 2009
    ..To report the first cases of a homozygous recessive mutation in NEFL, the gene that encodes the light subunit of neurofilaments...
  77. ncbi The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
    C Angelini
    Department of Neurosciences, University of Padova, Padova, Italy
    Neurol Res 32:41-6. 2010
    ....
  78. ncbi Familial influence on age of onset among siblings with Huntington disease
    A Rosenblatt
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland USA
    Am J Med Genet 105:399-403. 2001
    In order to provide data relevant to a search for modifying genes for age of onset in Huntington disease, we examined the relationship between CAG number and age of onset in a total of 370 individuals from 165 siblingships, in two cohorts ..
  79. ncbi Clinical significance of inflammatory back pain for diagnosis and screening of patients with axial spondyloarthritis
    Juergen Braun
    Correspondence to Professor Juergen Braun, Rheumazentrum Ruhrgebiet, Herne D 44652, Germany
    Ann Rheum Dis 69:1264-8. 2010
    ..The value of IBP for diagnosis of SpA increases in the presence of other more or less sensitive and specific features of SpA such as response to exercise and physical therapy and/or treatment with non-steroidal anti-inflammatory agents...
  80. ncbi Brain morphometric abnormalities in geriatric depression: long-term neurobiological effects of illness duration
    Sandra Bell-McGinty
    Neuropsychology Research Program, Department of Psychiatry, University of Pittsburgh Medical Center, PA 15213, USA
    Am J Psychiatry 159:1424-7. 2002
    ..The authors' goal was to compare regional brain volumes in depressed elderly subjects with those of nondepressed elderly subjects by using voxel-based morphometry...
  81. pmc CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches
    Douglas R Langbehn
    Department of Psychiatry, Carver College of Medicine, University of Iowa, Iowa City, IA 52242 1000, USA
    Am J Med Genet B Neuropsychiatr Genet 153:397-408. 2010
    CAG-repeat length in the gene for HD is inversely correlated with age of onset (AOO). A number of statistical models elucidating the relationship between CAG length and AOO have recently been published...
  82. pmc Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C
    Nicole M Yanjanin
    Program on Developmental Endocrinology and Genetics, NICHD, NIH, DHHS, Bethesda, Maryland, USA
    Am J Med Genet B Neuropsychiatr Genet 153:132-40. 2010
    ..type C is a neurodegenerative, lysosomal storage disorder with a broad clinical spectrum and a variable age of onset. The absence of a universally accepted clinical outcome measure is an impediment to the design of a therapeutic ..
  83. pmc Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1
    Leslie A Rudzinski
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Alzheimer Dis Assoc Disord 22:299-307. 2008
    ....
  84. ncbi Brain-derived neurotrophic factor regulates the onset and severity of motor dysfunction associated with enkephalinergic neuronal degeneration in Huntington's disease
    Josep M Canals
    Departament de Biologia Cel lular i Anatomia Patològica, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, Spain
    J Neurosci 24:7727-39. 2004
    ..Hence, administration of exogenous BDNF may delay or stop illness progression...
  85. ncbi Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
    S H Subramony
    Department of Neurology, University of Mississippi Medical Center, Jackson 39216, USA
    Neurology 64:1261-2. 2005
    ..The authors discuss the problems related to rating scales in the ataxias, report a neurologic rating scale for FA, and demonstrate acceptable interrater reliability of the instrument...
  86. pmc Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:334-41. 2009
    ..SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk...
  87. ncbi Epidemiology of rheumatoid arthritis: determinants of onset, persistence and outcome
    Deborah P M Symmons
    University of Manchester Medical School, Oxford Road, Manchester, M13 9PT, UK
    Best Pract Res Clin Rheumatol 16:707-22. 2002
    ..During this time the peak age of onset has risen...
  88. ncbi Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome
    Anne Laure Sellier-Leclerc
    Service de Nephrologie, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, 48 Boulevard Serurier, 75 019 Paris, France
    J Am Soc Nephrol 18:2392-400. 2007
    ..New therapies are urgently needed, and further research should elucidate the unexplained HUS group...
  89. ncbi Correlations between apolipoprotein E epsilon4 gene dose and whole brain atrophy rates
    Kewei Chen
    Banner Alzheimer Institute, Banner Good Samaritan PET Center, 1111 E McDowell Rd, Phoenix, AZ 85006, USA
    Am J Psychiatry 164:916-21. 2007
    ..The authors previously found accelerated whole brain atrophy rates in patients with probable Alzheimer's disease by computing changes in brain volume from sequential magnetic resonance images (MRIs)...
  90. ncbi Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
    P Van Damme
    Department of Neurology, University Hospital Leuven, Leuven, Belgium
    Neurology 76:2066-72. 2011
    ..Intermediate CAG repeat expansions in ataxin 2 (ATXN2), the causative gene of spinocerebellar ataxia type 2 (SCA2), have been implicated in sporadic ALS. We studied ATXN2 in a large cohort of patients with sporadic and familial ALS...
  91. ncbi Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease
    P Laforet
    Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, 75651 Paris Cedex 13, France
    Neurology 70:2063-6. 2008
    ..Strokes related to intracranial aneurysm or arteriopathy have been reported in a few patients with late-onset Pompe disease. These reports suggested that cerebral vessel involvement could be an underrecognized complication of this disease...
  92. pmc MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer
    María Dolores Giráldez
    Gastroenterology Department, Institut de Malalties Digestives i Metaboliques, Hospital Clinic, Centro de Investigacion Biomedica en Red de Enfermedades Hepaticas y Digestivas CIBERehd, Institut d Investigacions Biomediques August Pi i Sunyer, DIBAPS, University of Barcelona, Barcelona, Spain
    Clin Cancer Res 16:5402-13. 2010
    ..Lynch syndrome is the most frequent CRC hereditary cause. The MUTYH gene has also been related to hereditary CRC. A systematic characterization of these two diseases has not been reported previously in this population...
  93. pmc Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update
    G Raux
    J Med Genet 42:793-5. 2005
    ..Autosomal dominant early onset Alzheimer's disease (ADEOAD) is genetically heterogeneous. Mutations of the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes have been identified...
  94. ncbi Diabetic nephropathy in 27,805 children, adolescents, and adults with type 1 diabetes: effect of diabetes duration, A1C, hypertension, dyslipidemia, diabetes onset, and sex
    Klemens Raile
    Department of Pediatric Endocrinology and Diabetes, Charite Children s Hospital, Augustenburger Platz 1, 13353 Berlin, Germany
    Diabetes Care 30:2523-8. 2007
    ..To give an up-to-date profile of nephropathy and the involvement of risk factors in a large, prospective cohort of patients with type 1 diabetes and largely pediatric and adolescent onset of disease...
  95. ncbi Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
    M Anheim
    Departement de Neurologie, Hopital Civil, Centre Hospitalier Universitaire de Strasbourg, 1, Place de l Hopital, 67000, Strasbourg, France
    Neurogenetics 11:1-12. 2010
    ..The strategic scheme is a useful tool for the diagnosis of ARCAs in clinical practice...
  96. ncbi p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome
    Kaisa Sotamaa
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
    Clin Cancer Res 11:6840-4. 2005
    The Arg/Pro polymorphism in codon 72 of p53 was recently associated with age of onset of colorectal cancer in Lynch syndrome...
  97. ncbi Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome
    Bente A Talseth-Palmer
    School of Biomedical Sciences and Pharmacy, University of Newcastle, HMRI, Room 3642, Level 3, John Hunter Hospital, Newcastle, Australia
    J Med Genet 48:279-84. 2011
    ..The objective of this study was to genotype nine SNPs within these six loci to confirm previous findings and investigate whether they act as modifiers of disease risk in patients with Lynch syndrome...
  98. ncbi Update on age at menarche in Italy: toward the leveling off of the secular trend
    Franco Rigon
    Department of Pediatrics, University of Padua, Padua, Italy
    J Adolesc Health 46:238-44. 2010
    ..Recent studies suggest that the magnitude of the secular trend toward an earlier age at menarche is slackening in industrialized countries...
  99. ncbi Age at onset in bipolar I affective disorder: further evidence for three subgroups
    Frank Bellivier
    Department of Psychiatry, Hôpital Henri Mondor et Albert Chenevier, Assistance Publique Hopitaux de Paris, 51 avenue du Mal de Lattre de Tassigny, 94010 Creteil Cedex, France
    Am J Psychiatry 160:999-1001. 2003
    ..Preliminary data suggested that there are three subgroups of bipolar affective disorder based on age at onset. The authors sought to replicate those findings and determine the cut-off age of each subgroup...
  100. pmc Mutations in CHEK2 associated with prostate cancer risk
    Xiangyang Dong
    Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic Mayo Medical School, Rochester, MN 55905, USA
    Am J Hum Genet 72:270-80. 2003
    ..Overall, our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage-signaling pathway may play an important role in the development of prostate cancer...
  101. pmc New aspects on patients affected by dysferlin deficient muscular dystrophy
    Lars Klinge
    University of Newcastle, Institute of Human Genetics, The Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 81:946-53. 2010
    ..A wider range of age of onset was noted than previously reported, with 25% of patients having first symptoms before the age of 13 years...

Research Grants74

  1. EXERCISE AND ENERGY/SUBSTRATE UTIL IN BLACKS WITH NIDDM
    Dara Schuster; Fiscal Year: 2002
    ..prevalence of type 2 diabetes mellitus (DM), greater disease-associated morbidity and mortality and earlier age of onset than Caucasian Americans (CA)...
  2. Epidemiology and Mechanisms of Fecal Incontinence
    Adil Bharucha; Fiscal Year: 2005
    ..8 percent with a median age of onset of 61 years. Obstetric events, diarrhea/urgency and obesity are risk factors for FI...
  3. Modifier Genes of Familial Hypertrophic Cardiomyopathy
    ALI MARIAN; Fiscal Year: 2005
    ..Genotype-phenotype correlation studies indicate marked variation in age of onset and severity of hypertrophy even within the same family with the same mutation...
  4. FOXC2 in Hereditary Lymphedema and Lymphatic Development
    Thomas Glover; Fiscal Year: 2007
    ..Most are autosomal dominant with variable expression and age of onset. The primary target tissue in these conditions is the lymphatic system, a poorly understood component of the ..
  5. Enzymatic Regulation of S-Glutathionylation : Role in Apoptosis and Disease
    John J Mieyal; Fiscal Year: 2012
    ..Nearly a million Americans suffer from PD. The average age of onset is 60 years old, but some cases involve people as young as 30...
  6. Anxiety development in 5-HT1A autoreceptor knockout mice, interaction with stress
    Rene Hen; Fiscal Year: 2010
    ..The mean age of onset for an anxiety disorder is 11...
  7. Dioxins and Male Pubertal Growth and Development
    Russ B Hauser; Fiscal Year: 2013
    ..Environmental chemicals of particular concern for altered age of onset and progression of male puberty include chlorinated aromatic hydrocarbons, a family of highly toxic ..
  8. Neuroimmune modulation across the BBB: Regulation of ILS trafficking by TNF
    Weihong Pan; Fiscal Year: 2012
    ..Multiple sclerosis (MS) is a devastating and progressive disorder with an age of onset typically between 20 and 40...
  9. Spinocerebellar Ataxia Type 2 Gene and Gene Product
    Stefan M Pulst; Fiscal Year: 2012
    ..We will differentiate effects on disease initiation and on progression by determining age of onset as well as parameters of morphologic and behavioral progression in the resulting crosses...
  10. Perinatal Stress and programming of childhood wheeze and lung function
    Rosalind J Wright; Fiscal Year: 2013
    ..wheezing is still evolving, epidemiological studies have characterized distinct patterns of wheezing based on age of onset, remission, and persistence with further classification based on allergic, immunologic and physiological ..
  11. Developmental Genetic Epidemiology of Smoking
    Hermine H Maes; Fiscal Year: 2013
    ..genes and environments influence SI and SP throughout adolescence, 10) there is genetic overlap between SI, age of onset of SI and between age of onset and SP/ND, 11) the contribution of environmental risk factors is greater to SI ..
  12. Bilateral cochlear implants: Physiology and psychophysics
    Bertrand Delgutte; Fiscal Year: 2012
    ..The specific aims are to (1) compare neural ITD sensitivity in animals differing in age of onset of deafness and duration of deafness in order to test whether deprivation of binaural experience has an effect ..
  13. CAT1920: A Small Molecule Therapeutic for the Treatment of IBD
    MICHAEL ROBERT JIROUSEK; Fiscal Year: 2010
    ..IBD affects 1.4 million patients in the United States and the incidence is increasing and the age of onset is decreasing...
  14. Vitamin D, Epstein-Barr virus infection, and cigarette smoking and risk of multip
    Alberto Ascherio; Fiscal Year: 2013
    ..The average life time risk of MS in U.S. women is about 5 per thousand. Because the peak age of onset is the late 20's to early 30's, the impact of MS extends over a critical period of life, and affects ..
  15. Blood-based detection of BRAF DNA as a biomarker in metastatic melanoma patients
    David Polsky; Fiscal Year: 2012
    ..With a relatively young age of onset, the toll of melanoma in terms of "life-years lost" is second only to breast cancer among the major solid tumor ..
  16. Genetic Disorder of Mucocilary Clearance
    Michael R Knowles; Fiscal Year: 2013
    ..two ongoing longitudinal studies in PCD infants, children, and adolescents, which are designed to determine the age of onset and rate of progression of lung disease, onset of respiratory infection and evolution of respiratory ..
  17. Genetic Analysis of Age Related Hearing Impairment
    Rick A Friedman; Fiscal Year: 2010
    ..The age of onset for ARHI varies markedly;with overall prevalence increasing steadily with age, so that 60% of individuals aged ..
  18. Genetics and Biology of CIZ1 in Cervical Dystonia
    Mark S Ledoux; Fiscal Year: 2013
    ..Dystonia is classified by etiology, age of onset and anatomical distribution...
  19. Genetic Etiologies of Horizontal Strabismus
    Elizabeth C Engle; Fiscal Year: 2013
    ..CCS is well suited for family-based analysis because of its early age of onset, high rate of family recurrence, and ease of family members'recruitment...
  20. Second-site genetic modifiers of CTG/CAG microsatellite stability
    Michael Leffak; Fiscal Year: 2013
    ..The extent of CTG/CAG expansion is linked to increased disease severity and earlier age of onset of symptoms, but the penetrance of DM1 varies widely...
  21. An Integrative Systems Genetics Approach to Nephrotic Syndrome
    MATTHEW GORDON SAMPSON; Fiscal Year: 2013
    ..The association with clinical outcomes such as age of onset, remission of proteinuria, and decline of renal function will be determined for patients with rare variants in ..
  22. Culturally Adapted Strategies to Enhance Kidney Donation in Native Communities
    Dedra S Buchwald; Fiscal Year: 2013
    ..5 times higher than in White Americans, while the mean age of onset of end-stage renal disease is 6 years younger than in Whites...
  23. Prevalence of FMRI Expansions in Movement Disorders
    Deborah A Hall; Fiscal Year: 2010
    ..The age of onset, age of diagnosis of neurological signs, and correlations between trinucleotide repeat size and phenotype are ..
  24. Gene Therapy for Neurodegenerative Lysosomal Storage Diseases
    Douglas R Martin; Fiscal Year: 2013
    ..Human GM1 gangliosidosis occurs as three types based on disease severity and age of onset, classified as infantile, juvenile, and adult-onset forms...
  25. Studying the role of the nuclear lamina in age dependent demyelination
    Quasar S Padiath; Fiscal Year: 2013
    ..ADLD is unique among leukodystrophies with an exclusively late age of onset, suggesting that mechanisms specifically involving age- dependent myelin regulation are affected...
  26. Retrospective Assessment of Military Occupations &Neurodegenerative Diseases
    Lorene M Nelson; Fiscal Year: 2011
    ..Since prospective studies of neurodegenerative diseases such as ALS and PD which have a late age of onset are not usually feasible, further investigation of these associations requires the development of retrospective ..
  27. Understanding the genetic risk underlying racial disparities in uterine fibroids
    Digna R Velez Edwards; Fiscal Year: 2013
    ..Racial disparities also support a role for genetics with fibroid risk. African American women have earlier age of onset, more numerous and larger fibroids with a greater lifetime incidence compared to Caucasians...
  28. HIV Infection and Falls: Epidemiology and Risk Assessment
    Julie A Womack; Fiscal Year: 2013
    ..I propose the following specific aims: 1) To determine the incidence, frequency, sequelae, and age of onset of SF;2) To elucidate traditional and HIV-specific risk factors for SF;3) In HIV infected individuals who have ..
  29. A Targeted Approach to Increasing American Indian Tissue and Organ Donation
    Dedra S Buchwald; Fiscal Year: 2011
    ..0.Additionally, the mean age of onset of ESRD among Als is 6 years younger than among their White counterparts...
  30. Digital Star: HIV Prevention for Youth in Mental Health Treatment
    Josh S Spitalnick; Fiscal Year: 2013
    ..in mental health treatment are at greater risk for HIV and other STIs than their peers due to an earlier age of onset of sex, less protected sex, more sexual partners, and more frequent substance use...
  31. Autosomal dominant hearing loss
    Karen Friderici; Fiscal Year: 2009
    ..gamma-actin gene cause progressive sensorineural hearing loss that resembles presbycusis except for an earlier age of onset. It is somewhat surprising for mutations in such a ubiquitously expressed and highly conserved gene, to be ..
  32. Accelerated Biological Aging in Schizophrenia
    Gregory A Light; Fiscal Year: 2013
    ..in biomarkers of aging in SZ and NC groups;and whether additional illness- and treatment-related factors (age of onset of illness, current and cumulative antipsychotic use) predict variation in those markers in the SZ sample...
  33. Blood-based detection of BRAF and NRAS DNA as biomarkers in patients with stage I
    David Polsky; Fiscal Year: 2013
    Abstract Melanoma remains a highly morbid disease in the United States. With a relatively young age of onset, the toll of melanoma in terms of "life-years lost" is second only to breast cancer among the major solid tumor malignancies...
  34. A longitudinal methylome study to detect biomarkers predicting MDD trajectories
    Edwin van den Oord; Fiscal Year: 2013
    ..For example, DNA sequence variants cannot explain the variability in age of onset or the dynamic course of MDD that is typified by exacerbations and remissions...
  35. Chemical Profiles of Brain Synapses at Ages Vulnerable to Activity-Based Anorexia
    Nicole C Barbarich-Marsteller; Fiscal Year: 2011
    ..AN has a stereotypical age of onset at puberty, with 90-95% of cases occurring in females [5]...
  36. ApoE4 Structure Correctors as a Therapeutic Approach for Alzheimers Disease
    Robert W Mahley; Fiscal Year: 2013
    ..ApoE4 increases the occurrence and lowers the age of onset of AD, and considerable evidence suggests that it has a fundamental role in AD neurodegeneration...
  37. Molecular Epidemiology of Pediatric Germ Cell Tumors
    Jenny N Poynter; Fiscal Year: 2013
    ..Given the early age of onset, genetic contributions seem likely...
  38. Biomarkers of Infertility
    ANNE ZWEIFEL STEINER; Fiscal Year: 2013
    ..Despite variability in the age of onset of infertility, no validated markers exist to monitor an individual woman's fertility...
  39. Regulation of Extracellular Matrix Homeostatsis in Skin Aging
    Gary J Fisher; Fiscal Year: 2013
    ..The results from the proposed studies will provide important insights regarding 1) the age of onset of human skin aging, 2) molecular actions of topical antioxidant, 3) mechanisms by which oxidative exposure ..
  40. Targeting ApoE4 as a Therapeutic Strategy for Alzheimer's Disease
    Robert W Mahley; Fiscal Year: 2013
    ..ApoE4 increases the occurrence and lowers the age of onset of AD, and considerable evidence suggests that it has a fundamental role in the neurodegeneration and ..
  41. Biobehavioral pathways linking stress and cancer progression
    Jennifer L Steel; Fiscal Year: 2013
    ..Early adverse events are expected to be associated with an earlier age of onset of these maladaptive health behaviors (e.g...
  42. PGC-1alpha and GABAergic Dysfunction in Huntington Disease
    Rita Marie Cowell; Fiscal Year: 2013
    ..Furthermore, polymorphisms in the PGC-1 gene influence the age of onset of motor symptoms...
  43. Aqueous Humor Dynamic Components that Determine Intraocular Pressure Variance
    Sayoko E Moroi; Fiscal Year: 2013
    ....
  44. Modifiers of Age of Onset in ALS Studied Using Patient iPS-derived Motor Neurons
    DEREK HAYDEN OAKLEY; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Modifiers of Age of Onset in ALS Studied Using Patient iPS-derived Motor Neurons Amyotrophic lateral sclerosis (ALS) is a uniformly fatal age-associated neurodegenerative disease that destroys motor ..
  45. Longitudinal Analysis of Transcriptomic Endophenotypes in Asthma
    Geoffrey L Chupp; Fiscal Year: 2013
    ..been defined in limited terms and imprecise clinical paradigms that rely on features such as allergic history, age of onset, lung function, and symptoms of "severity...
  46. LSDs:A Pilot NBS and Examination of the Associated Ethical Legal &Social Issues
    MELISSA PITTEL WASSERSTEIN; Fiscal Year: 2013
    ..clinical databases will also be shared with the NBSTRN, with the goal of developing models to predict age of onset of disease over the lifespan in order to optimize treatment and avoid premature use of costly therapies...
  47. NEUROCOGNITIVE CONSEQUENCES OF UNDERAGE DRINKING
    Andrey P Anokhin; Fiscal Year: 2012
    ..exposure and neurocognitive functioning and to determine the extent to which these associations depend on the age of onset of alcohol use, the extent of exposure, and recency of alcohol use, 2) to isolate consequences of alcohol ..
  48. Identification of a Novel Gene for Parkinson Disease
    Han Xiang Deng; Fiscal Year: 2012
    ..Because PD is a late-onset disease with an average age of onset between 60 and 80 years, it is practically rather difficult to collect large PD families and DNA samples...
  49. Molecular Basis of rCGG-Mediated Neurodegeneration
    DAVID LOREN NELSON; Fiscal Year: 2013
    ..Fragile X-associated tremor/ataxia syndrome (FXTAS), a late age of onset neurodegenerative disorder, has been recognized in older males of fragile X premutation carriers, which is ..
  50. Antimanic Use During Pregnancy
    Katherine L Wisner; Fiscal Year: 2010
    ..5 -1.5% of individuals in America. The age of onset of BP is during the initial childbearing years...
  51. Aging and the Tissue Response to Misfolded Proteins
    Joel N Buxbaum; Fiscal Year: 2012
    ..human senile systemic amyloidosis in terms of its target tissues (heart, gut, kidneys, but not liver), age of onset (from over one year to 2.5 years, and tissue deposition (non-fibrillar and fibrillar)...
  52. Progranulin: Mutation and Regulation in Neurodegenerative disease
    Rosa Rademakers; Fiscal Year: 2012
    ..lobar degeneration represents 10-20% of all dementias and is clinically important because of its earlier age of onset compared to Alzheimer's disease (AD), and its dramatic impact on core human qualities including ..
  53. ALCOHOL PHARMACOGENETICS IN MEXICAN AMERICANS
    YU JUI WAN; Fiscal Year: 2009
    ..ADH3*2 and ADH2*1 alleles with binge drinking;and (5) association of the DRD2 Taq1 A and 1B alleles with early age of onset for drinking. In this new funding cycle, we plan to further pursue and clarify the meaning of these findings...
  54. 5/8-Predictors and Mechanisms of Conversion to Psychosis
    Diana O Perkins; Fiscal Year: 2013
    ..The peak age of onset is between ages 18-30, occurring just as life's most productive years are beginning...
  55. 7/8 Predictors and Mechanisms of Conversion to Psychosis
    JEAN M ADDINGTON; Fiscal Year: 2012
    ..The peak age of onset is between ages 18-30, occurring just as life's most productive years are beginning...
  56. Basal Ganglia Functions in Huntington's Disease: Genetic Mouse Models
    Elizabeth D Abercrombie; Fiscal Year: 2012
    ..The number of glutamine repeats correlates with the age of onset and severity of HD although the molecular mechanisms mediating the neurotoxicity of the mutation remain unknown...
  57. Integrative Genomics to Dissect the Genetic Regulation of T1D Onset
    Xujing Wang; Fiscal Year: 2010
    ..This project aims to investigate the genetic regulation of age of onset in T1D with the long term goal of dissecting the genetic architecture underlying T1D and to identify means than ..
  58. Behavioral disinhibition in early-onset alcoholism
    Peter R Finn; Fiscal Year: 2012
    ..disorder with considerable variation in severity of symptoms, types and severity of co- morbid disorders, age of onset, and course...
  59. Sex Differences in Developing Microglia: Implications for Synaptic Pruning
    Staci D Bilbo; Fiscal Year: 2013
    ..provided by applicant): Many neuropsychiatric disorders exhibit marked sex differences in prevalence and age of onset. Males are more likely to have disorders that arise in early childhood, including autism, schizophrenia, and ..
  60. The NINDS International Stroke Genetics Consortium Study
    Bradford B Worrall; Fiscal Year: 2013
    ..and its subtypes, with secondary analyses addressing subpopulations, including race/ethnicity, gender, and age of onset. 3...
  61. REGULATION OF SCLERAL GROWTH AND REMODELING IN MYOPIA
    Jody A Summers; Fiscal Year: 2013
    ..The increasing prevalence of myopia and earlier age of onset emphasize the need for the identification of pharmaceutical targets for the development of an effective therapy...
  62. Exercise and energy/substrate use in blacks with NIDDM
    Dara Schuster; Fiscal Year: 2002
    ..prevalence of type 2 diabetes mellitus (DM), greater disease-associated morbidity and mortality and earlier age of onset than Caucasian Americans (CA)...
  63. URINARY INCONTINENCE--REPRODUCTIVE/HORMONAL RISK FACTORS
    David Thom; Fiscal Year: 2001
    ..The study will also provide important descriptive information on UI by type, age group, ethnicity, severity and age of onset. Childbirth, hysterectomy and hormone use have all been implicated as risk factors for UI based on previous ..
  64. SEX DIFFERENCES IN SCHIZOPHRENIA
    Gretchen Haas; Fiscal Year: 1991
    ..Females have a more benign course, typified by later age of onset, better premorbid adjustment, more affective symptoms, fewer cognitive deficits, better neuroleptic response, ..
  65. Hypertension-Prevention Beliefs Among African Americans
    Rosalind Peters; Fiscal Year: 2003
    ..Significant racial disparities exist in the age of onset, prevalence rate, and clinical outcomes, with African Americans bearing a disproportionate burden of this ..
  66. DNA CONFORMATION, TRIPLET EXPANSION, AND HUMAN DISEASE
    Robert Wells; Fiscal Year: 1999
    ..of these hereditary diseases show anticipation, in which the severity of the disease increases and/or the age of onset decreases in successive generations...
  67. Type 2 Diabetes Gene Discovery Linked to 3p in Hispanics
    Donna Lehman; Fiscal Year: 2009
    ..In addition, the utilization of a novel statistical functional genomic analysis (BQTN) in the 3rd specific aim of this proposal should enhance the final stage of identifying the specific variants involved. ..
  68. Stargazer: A Simple Genetic Model for Epilepsy
    VERITY LETTS; Fiscal Year: 2007
    Epilepsy is characterized by recurrent brain seizures with variable age of onset and degree of severity of disease. This disorder is also very prevalent - ranking as the most common neurological affliction in the human population...
  69. MOLECULAR EPIDEMIOLOGY OF PROSTATE CANCER
    Timothy Rebbeck; Fiscal Year: 1999
    ..In Specific Aim l, the relationship of each of the candidate genes and the occurrence or age of onset of prostate cancer will be examined...