Katrina Gwinn-Hardy

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
    Sarah Furtado
    Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada
    Mov Disord 19:622-9. 2004
  2. pmc Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
    Katrina Gwinn
    National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 2:e1254. 2007
  3. pmc Whole genome association studies of neuropsychiatric disease: An emerging era of collaborative genetic discovery
    Margaret A Keller
    Coriell Institute for Medical Research, Camden, NJ, USA
    Neuropsychiatr Dis Treat 3:613-8. 2007
  4. ncbi request reprint Genetics of parkinsonism
    Katrina Gwinn-Hardy
    Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 17:645-56. 2002
  5. ncbi request reprint The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases
    Dena Hernandez
    Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA
    Neurosci Lett 389:137-9. 2005
  6. ncbi request reprint Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion
    David W Miller
    Laboratory of Neurogenetics, NIA, National Institutes of Health, Bldg 35, Rm 1A 100, 35 Convent Drive, Bethesda, MD 20892, USA
    Neurosci Lett 374:189-91. 2005
  7. ncbi request reprint Mutation at the SCA17 locus is not a common cause of parkinsonism
    Dena Hernandez
    Molecular Genetics Section, National Institute on Aging, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Parkinsonism Relat Disord 9:317-20. 2003
  8. ncbi request reprint Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
    Hon Chung Fung
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet Neurol 5:911-6. 2006
  9. ncbi request reprint Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease
    Michiko K Bruno
    Parkinson s Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
    Mov Disord 19:228-30. 2004
  10. ncbi request reprint Genetic testing in Parkinson's disease
    Aideen McInerney-Leo
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20952, USA
    Mov Disord 20:1-10. 2005

Research Grants

Detail Information

Publications49

  1. ncbi request reprint Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
    Sarah Furtado
    Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada
    Mov Disord 19:622-9. 2004
    ..This review emphasizes the importance of testing for SCA2 in patients with parkinsonism and a family history of neurodegenerative disorders. Testing for SCA2 is also important in studies of inherited parkinsonism...
  2. pmc Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
    Katrina Gwinn
    National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 2:e1254. 2007
    ..This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS...
  3. pmc Whole genome association studies of neuropsychiatric disease: An emerging era of collaborative genetic discovery
    Margaret A Keller
    Coriell Institute for Medical Research, Camden, NJ, USA
    Neuropsychiatr Dis Treat 3:613-8. 2007
    ....
  4. ncbi request reprint Genetics of parkinsonism
    Katrina Gwinn-Hardy
    Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 17:645-56. 2002
    ....
  5. ncbi request reprint The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases
    Dena Hernandez
    Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA
    Neurosci Lett 389:137-9. 2005
    ..The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease...
  6. ncbi request reprint Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion
    David W Miller
    Laboratory of Neurogenetics, NIA, National Institutes of Health, Bldg 35, Rm 1A 100, 35 Convent Drive, Bethesda, MD 20892, USA
    Neurosci Lett 374:189-91. 2005
    ..We find there is not and discuss this result in terms of the putative relationships between alpha-synuclein and parkin...
  7. ncbi request reprint Mutation at the SCA17 locus is not a common cause of parkinsonism
    Dena Hernandez
    Molecular Genetics Section, National Institute on Aging, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Parkinsonism Relat Disord 9:317-20. 2003
    ..We did not find any repeat sizes in the pathogenic range. The repeats we observed ranged from 29 to 41 (mean 36.8; median 37). We conclude that SCA-17 repeat expansion mutations are not a common cause of familial parkinsonism...
  8. ncbi request reprint Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
    Hon Chung Fung
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet Neurol 5:911-6. 2006
    ....
  9. ncbi request reprint Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease
    Michiko K Bruno
    Parkinson s Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
    Mov Disord 19:228-30. 2004
    ..Further genotype-phenotype studies in this and similar families may give clues to pre-symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future...
  10. ncbi request reprint Genetic testing in Parkinson's disease
    Aideen McInerney-Leo
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20952, USA
    Mov Disord 20:1-10. 2005
    ..We explore the utility, appropriateness, and possible implications of genetic testing for diagnostic and presymptomatic purposes...
  11. ncbi request reprint Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation
    Janel Johnson
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA
    Neurodegener Dis 4:386-91. 2007
    ..Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism...
  12. ncbi request reprint Genetics of Parkinson's disease and parkinsonism
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD 20892, USA
    Ann Neurol 60:389-98. 2006
    ....
  13. ncbi request reprint Preliminary results of an anticircumsporozoite DNA vaccine trial for protection against avian malaria in captive African black-footed penguins (Spheniscus demersus)
    K Christiana Grim
    National Institute for Allergy and Infectious Diseases, The National Institutes of Health, Bethesda, Maryland 20892, USA
    J Zoo Wildl Med 35:154-61. 2004
    ..During the year of the vaccine trial, no mortalities due to malaria occurred and no undesirable vaccination side effects occurred. This is the first trial of an antimalarial vaccine in a captive penguin colony...
  14. ncbi request reprint Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease
    Javier Simon-Sanchez
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A100, MSC 3707, 35 Lincoln Drive, Bethesda, MD 20892, USA
    Neurosci Lett 382:191-4. 2005
    ..We identified one pathogenic expansion in SCA-2 in a North American family with autosomal dominant parkinsonism...
  15. ncbi request reprint Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features
    Melissa Hanson
    Laboratory of Neurogenetics, National Institute on Aging National Institutes of Health, Bethesda, MD 20892, USA
    J Neurol 251:1398-401. 2004
    ....
  16. ncbi request reprint Parkinson's disease and dementia with Lewy bodies: a difference in dose?
    Andrew Singleton
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet 364:1105-7. 2004
  17. ncbi request reprint A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia
    Roneil Malkani
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35, Convent Drive, Bethesda, MD 20892, USA
    Neurobiol Dis 22:401-3. 2006
    ..This mutation sheds light on a novel mechanism by which over-expression of 4-repeat tau leads to disease. Based on our current findings, we propose a novel mechanism by which intronic mutations can lead to frontotemporal dementia...
  18. pmc Endogenous TGF-beta activation by reactive oxygen species is key to Foxp3 induction in TCR-stimulated and HIV-1-infected human CD4+CD25- T cells
    Shoba Amarnath
    Mucosal Immunology Unit, OIIB, NIDCR, NIH, Bethesda, MD 20895, USA
    Retrovirology 4:57. 2007
    ..We also explored the effects of TGF-beta on HIV-1 infection mediated induction of human Tregs since recent evidence has suggested that HIV-1 infection may also impact the generation of Tregs in infected patients...
  19. ncbi request reprint CD4+CD25+ T regulatory cells and TGF-beta in mucosal immune system: the good and the bad
    Wanjun Chen
    Mucosal Immunology Unit, Oral Infection and Immunity Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Med Chem 14:2245-9. 2007
    ..In this article, we attempt to discuss both beneficial and detrimental effects of TGF-beta and Tregs on oral tolerance, mucosal inflammation and autoimmunity, colon cancer and HIV infection in the gut...
  20. pmc Measuring the effects of an ever-changing environment on malaria control
    Thomas F McCutchan
    Laboratory of Parasitic Diseases, Section of Growth and Development, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 0425, USA
    Infect Immun 72:2248-53. 2004
    ..These results indicate that dominant environmental parameters associated with malaria deaths can be addressed before their application to a less malleable human system...
  21. pmc Compensatory evolution in the human malaria parasite Plasmodium ovale
    Thomas F McCutchan
    Growth and Development Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 0425, USA
    Genetics 166:637-40. 2004
    ..The appearance of compensatory mutations and intermediate states in P. ovale raises interesting questions about population structure that could have considerable impact on the control of the associated disease...
  22. ncbi request reprint Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication
    Amanda Singleton
    Parkinson s Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Brain 127:768-72. 2004
    ..These results indicate that both parkinsonism and cardiac sympathetic denervation can result from an excess of normal synuclein...
  23. pmc Prevalence of Parkinson's disease in populations of African ancestry: a review
    Aideen McInerney-Leo
    Medical Genetics Branch, National Human Genome Research Institute, Building 10, Room 3C710, 10 Center Drive, MSC 1253, Bethesda, MD 20892 1253, USA
    J Natl Med Assoc 96:974-9. 2004
    ....
  24. ncbi request reprint Familial Lewy body diseases
    Katrina Gwinn-Hardy
    Division of Intramural Research, Neurogenetics Laboratories, National Institute of Neurological Disease and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Geriatr Psychiatry Neurol 15:217-23. 2002
    ....
  25. ncbi request reprint Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
    Stephen Hague
    Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Ann Neurol 54:271-4. 2003
    ..This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD...
  26. pmc Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
    Joyce van de Leemput
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 3:e108. 2007
    ..We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans...
  27. doi request reprint A critical function for TGF-beta signaling in the development of natural CD4+CD25+Foxp3+ regulatory T cells
    Yongzhong Liu
    Mucosal Immunology Unit, Oral Infection and Immunity Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Immunol 9:632-40. 2008
    ..Thus, transforming growth factor-beta signaling is critical to the thymic development of natural CD4+CD25+Foxp3+ T(reg) cells...
  28. ncbi request reprint Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
    Javier Simon-Sanchez
    Molecular Genetics Unit, Departamento de Genómica y Proteómica, Instituto de Biomedicina de Valencia CSIC, 46010, Valencia, Spain
    Hum Mol Genet 16:1-14. 2007
    ..It is likely that this powerful methodology will augment existing techniques in the identification of chromosomal abnormalities...
  29. ncbi request reprint Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
    Mathias Toft
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
    Mov Disord 22:389-92. 2007
    ..3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease...
  30. ncbi request reprint Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
    Ruey Meei Wu
    Department of Neurology, National Taiwan University Hospital, No 7 Chung Shan South Road, Taipei 100, Taiwan
    Arch Neurol 62:82-7. 2005
    ..Loss of function of the parkin gene (PRKN) is the predominant genetic cause of juvenile and early-onset parkinsonism in Japan, Europe, and the United States...
  31. ncbi request reprint SCA2 may present as levodopa-responsive parkinsonism
    Haydeh Payami
    Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA
    Mov Disord 18:425-9. 2003
    ..The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism...
  32. ncbi request reprint Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians
    S H Subramony
    University of Mississippi Medical Center, Neurology Department, Jackson, Mississippi, USA
    Mov Disord 17:1068-71. 2002
    ..We suggest that trans-acting factors are responsible for the variable phenotype and discuss the implications of diseases showing racially different expressivities...
  33. ncbi request reprint Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations
    Ruey Meei Wu
    Department of Neurology, College of Medicine, National Taiwan University, and National Taiwan University Hospital, Taipei, Taiwan, Republic of China
    Mov Disord 17:670-5. 2002
    ..Furthermore, mRNA analyses identified aberrantly spliced parkin transcripts, suggesting that unusual parkin protein isoforms may be expressed in the brain and retain some function...
  34. ncbi request reprint Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications
    Matt Farrer
    Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
    Ann Neurol 55:174-9. 2004
    ..The profound implications of alpha-synuclein overexpression for idiopathic synucleinopathies are discussed...
  35. ncbi request reprint A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion
    Okan Dogu
    Movement Disorders Unit, Department of Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey
    Mov Disord 19:812-6. 2004
    ..To explore the importance of parkin in those of Turkish ancestry, we studied familial cases from that country, and identified a consanguineous family with early-onset Parkinson's disease due to a homozygous mutation in parkin...
  36. ncbi request reprint Phenomenology of "Lubag" or X-linked dystonia-parkinsonism
    Virgilio Gerald H Evidente
    Department of Neurology, Mayo Clinic, Scottsdale, Arizona 85259, USA
    Mov Disord 17:1271-7. 2002
    ..Thus, it is imperative to elicit an exhaustive family history in any Filipino male adult who presents with a movement disorder...
  37. ncbi request reprint X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype?
    Virgilio Gerald H Evidente
    Department of Neurology, Mayo Clinic Scottsdale, Scottsdale, Arizona 85259, USA
    Mov Disord 17:200-2. 2002
    ..We report on three cases of Lubag presenting with isolated parkinsonism without dystonia or late-onset dystonia and a slower course...
  38. ncbi request reprint The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population
    Matt Farrer
    Laboratory of Familial Movement Disorders, Mayo Clinic, Jacksonville, FL, USA
    Neurosci Lett 322:83-6. 2002
    ..52; 95% confidence interval: 2.64-11.10; P=2.17x10(-6)). Findings provide evidence that tau participates in the PD pathogenic process and demonstrate the value of isolated populations in mapping complex traits...
  39. ncbi request reprint A family with a tau P301L mutation presenting with parkinsonism
    Ruth H Walker
    Department of Neurology, Bronx VA Medical Center, NY 10468, USA
    Parkinsonism Relat Disord 9:121-3. 2002
    ..The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2...
  40. ncbi request reprint Limb cooling and focal dystonia
    Virgilio Gerald H Evidente
    Mov Disord 19:238. 2004
  41. ncbi request reprint Diagnostic criteria for psychosis in Parkinson's disease: report of an NINDS, NIMH work group
    Bernard Ravina
    Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14620, USA
    Mov Disord 22:1061-8. 2007
    ..These criteria require validation and may be refined, but form a starting point for studies of the epidemiology and pathophysiology of PDPsy, and are a potential indication for therapy development...
  42. ncbi request reprint Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats
    Jennifer Hussey
    Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
    Genet Test 6:217-20. 2002
    ..Using cloning and sequencing methods, we have constructed a ladder of ATX2 alleles of known size and sequence composition. This freely available size ladder will facilitate future quantification of expansions of the ATX2 locus...
  43. ncbi request reprint Genome-wide analysis of the parkinsonism-dementia complex of Guam
    Huw R Morris
    Department of Molecular Pathogenesis and Sara Koe PSP Research Centre, Queen Square Brain Bank for Neurological Disorders, Insatitute of Neurology, University College London, London, England, UK
    Arch Neurol 61:1889-97. 2004
    ..It occurs in focal geographic isolates, including Guam and the Kii peninsula of Japan. The familial clustering of the disease has suggested that a genetic factor could be important in its etiology...
  44. ncbi request reprint Ethnic differences and disease phenotypes
    John Hardy
    Science 300:739-40. 2003
  45. ncbi request reprint Parkinson's genetics: an embarrassment of riches
    Katrina Gwinn-Hardy
    Ann Neurol 51:7-8. 2002
  46. ncbi request reprint When is ataxia not ataxia?
    Katrina Gwinn-Hardy
    Arch Neurol 61:25-6. 2004
  47. ncbi request reprint Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study
    Virgilio Gerald H Evidente
    Department of Neurology, Mayo Clinic, 13400 E Shea Boulevard, Scottsdale, AZ 85259, USA
    Parkinsonism Relat Disord 10:407-10. 2004
    ..Nine of 20 Lubag patients (45%) had ccUPSIT scores below the mean, with the lowest score being 11. This pilot study suggests that olfactory dysfunction may occur in Lubag patients...
  48. ncbi request reprint Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease
    Ekaterina Rogaeva
    Centre for Research in Neurodegenerative Diseases and Division of Neurology, Department of Medicine, Toronto Western Hospital, University of Toronto, Ontario, Canada
    Arch Neurol 61:1898-904. 2004
    ..Mutations in the PTEN-induced kinase (PINK1) gene located within the PARK6 locus on chromosome 1p35-p36 have recently been identified in patients with recessive early-onset Parkinson disease...
  49. ncbi request reprint The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment
    I Sheng Lin
    Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, No 7, Chung Shan South Road, Taipei 100, Taiwan
    Parkinsonism Relat Disord 13:246-9. 2007
    ..This case expands the current phenotype associated with SCA17. SCA17 should be considered in the differential diagnosis of cases resembling multiple system atrophy, especially those with atypical features...

Research Grants1

  1. Pathophysiology of Conduction Block in HNPP.
    Jun Li; Fiscal Year: 2010
    ..Our study investigates molecular mechanisms responsible for the CB using HNPP and its animal model. ..