Thomas D Bird

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Geriatric neurogenetics: oxymoron or reality?
    Thomas D Bird
    Geriatric Research Education Clinical Center, VA Puget Sound Health Care System, 1660 S Columbian Way, S 182 GRECC, Seattle, WA 98108, USA
    Arch Neurol 65:537-9. 2008
  2. pmc Genetic aspects of Alzheimer disease
    Thomas D Bird
    University of Washington, Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington, USA
    Genet Med 10:231-9. 2008
  3. doi request reprint Approaches to the patient with neurogenetic disease
    Thomas D Bird
    Department of Neurology, University of Washington, Geriatric Research Center, Veterans Affairs Medical Center, Seattle, WA, USA
    Clin Lab Med 30:785-93. 2010
  4. ncbi request reprint Epidemiology and genetics of frontotemporal dementia/Pick's disease
    Thomas Bird
    VA Medical Center, Seattle, WA, USA
    Ann Neurol 54:S29-31. 2003
  5. ncbi request reprint Approaches to the patient with neurogenetic disease
    Thomas D Bird
    Department of Neurology, University of Washington, Geriatric Research Center, VA Medical Center, Seattle, WA, USA
    Neurol Clin 20:619-26, v. 2002
  6. pmc The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
    Chang En Yu
    Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, 1660 S Columbian Way, Seattle, WA 98108, USA
    Arch Neurol 67:161-70. 2010
  7. pmc Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype
    Suman Jayadev
    Department of Neurology, University of Washington, Seattle, WA, USA
    Ann Neurol 69:712-20. 2011
  8. ncbi request reprint Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia
    Purnima Desai Sundar
    Department of Medicine, Division of Gerontology and Geriatric Medicine, University of Washington, Seattle, WA 98195, USA
    Hum Mol Genet 16:295-306. 2007
  9. pmc Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders
    Ignacio F Mata
    Department of Neurology, University of Washington School of Medicine, Seattle, USA
    Arch Neurol 65:379-82. 2008
  10. pmc A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity
    Parvoneh Poorkaj
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA
    Mov Disord 25:1409-17. 2010

Detail Information

Publications81

  1. pmc Geriatric neurogenetics: oxymoron or reality?
    Thomas D Bird
    Geriatric Research Education Clinical Center, VA Puget Sound Health Care System, 1660 S Columbian Way, S 182 GRECC, Seattle, WA 98108, USA
    Arch Neurol 65:537-9. 2008
    ..Primary genetic diseases are generally associated with pediatric and young adult populations. Little information is available about the occurrence of single-gene mendelian diseases in elderly populations...
  2. pmc Genetic aspects of Alzheimer disease
    Thomas D Bird
    University of Washington, Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington, USA
    Genet Med 10:231-9. 2008
    ..The epsilon4 allele of Apo lipoprotein E influences age at onset of Alzheimer disease, but is neither necessary nor sufficient for the disease. The search continues for the discovery of additional genetic influences...
  3. doi request reprint Approaches to the patient with neurogenetic disease
    Thomas D Bird
    Department of Neurology, University of Washington, Geriatric Research Center, Veterans Affairs Medical Center, Seattle, WA, USA
    Clin Lab Med 30:785-93. 2010
    ....
  4. ncbi request reprint Epidemiology and genetics of frontotemporal dementia/Pick's disease
    Thomas Bird
    VA Medical Center, Seattle, WA, USA
    Ann Neurol 54:S29-31. 2003
  5. ncbi request reprint Approaches to the patient with neurogenetic disease
    Thomas D Bird
    Department of Neurology, University of Washington, Geriatric Research Center, VA Medical Center, Seattle, WA, USA
    Neurol Clin 20:619-26, v. 2002
    ..Clues suggesting the presence of a genetic disease, 2. The importance of family history, 3. The interpretation of sporadic cases, 4. Genetic counseling, 5. Genetic testing and 6. Available resources...
  6. pmc The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration
    Chang En Yu
    Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, 1660 S Columbian Way, Seattle, WA 98108, USA
    Arch Neurol 67:161-70. 2010
    ..However, it is unclear whether some rare FTD-related GRN variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by GRN mutations...
  7. pmc Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype
    Suman Jayadev
    Department of Neurology, University of Washington, Seattle, WA, USA
    Ann Neurol 69:712-20. 2011
    ..To describe the Alzheimer disease (AD)-like clinical and pathological features, including marked neurofibrillary tangle (NFT) pathology, of a familial prion disease due to a rare nonsense mutation of the prion gene (PRNP)...
  8. ncbi request reprint Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia
    Purnima Desai Sundar
    Department of Medicine, Division of Gerontology and Geriatric Medicine, University of Washington, Seattle, WA 98195, USA
    Hum Mol Genet 16:295-306. 2007
    ..Others have shown that SNP6 is also associated with risk for progressive supranuclear palsy. These two independent cis-acting sites presumably influence risk for Guam neuro-degenerative disorders by regulating MAPT expression...
  9. pmc Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders
    Ignacio F Mata
    Department of Neurology, University of Washington School of Medicine, Seattle, USA
    Arch Neurol 65:379-82. 2008
    ..However, these findings have not been consistently replicated, and most studies have had substantial methodological shortcomings...
  10. pmc A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity
    Parvoneh Poorkaj
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA
    Mov Disord 25:1409-17. 2010
    ..In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and four-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3...
  11. pmc A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations
    Dong Hui Chen
    Department of Neurology, University of Washington, Seattle, WA, USA
    J Neurol Sci 296:22-9. 2010
    ..However, recognizing the typical scapuloperoneal phenotype and X-linked inheritance pattern will help clinicians arrive at the correct diagnosis...
  12. ncbi request reprint APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation
    Ellen M Wijsman
    Department of Medicine, Division of Medical Genetics, University of Washington, Box 357720, Seattle, WA 98195 7720, USA
    Am J Med Genet B Neuropsychiatr Genet 132:14-20. 2005
    ..5, and approximately 8.5%, respectively. These results provide evidence that APOE and other loci modify onset in AD caused by PS2 mutation...
  13. ncbi request reprint Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds
    Dong Hui Chen
    Department of Neurology, University of Washington, Seattle, 98195 7720, USA
    Arch Neurol 62:597-600. 2005
    ..An autosomal dominant form of this disorder was mapped to chromosome 2q33-36, and different missense mutations in exon 1 of the myofibrillogenesis regulator 1 (MR1) gene were identified recently in 2 kindreds...
  14. ncbi request reprint Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's disease
    Weiva Sieh
    Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Hum Hered 63:26-34. 2007
    ..We evaluated the effects of different methods of haplotype frequency estimation, and the use of marker phase information, on linkage analysis of a multi-SNP cluster in a candidate region for Alzheimer's disease (AD)...
  15. pmc The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease
    Chang En Yu
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, University of Washington, Seattle, WA 98108, USA
    Arch Neurol 67:631-3. 2010
    ..To connect a new family with early-onset Alzheimer disease (EOAD) in Germany to the American Volga German pedigrees...
  16. pmc Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families
    Elizabeth E Marchani
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195 7720, USA
    Am J Med Genet B Neuropsychiatr Genet 153:1031-41. 2010
    ..More generally, this study also demonstrates the value of searching for modifier loci in existing datasets previously used to identify primary causal variants for complex disease traits...
  17. pmc Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity
    Yoonha Choi
    Department of Biostatistics, University of Washington, Seattle, USA
    Am J Med Genet B Neuropsychiatr Genet 156:785-98. 2011
    ..These results, therefore, provide independent confirmation of AD loci in family-based samples on chromosomes 1q, 7q, 19p, and suggest that further efforts towards identifying the underlying causal loci are warranted...
  18. pmc Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates
    Weiva Sieh
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Hum Mol Genet 18:3725-38. 2009
    ..Elucidation of the genetic basis of ALS/PDC should improve our understanding of related neurodegenerative disorders including Alzheimer disease, Parkinson disease, frontotemporal dementia and ALS...
  19. pmc Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia
    Dong Hui Chen
    Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
    Am J Hum Genet 72:839-49. 2003
    ..These results strongly support a new mechanism for neuronal cell dysfunction and death in hereditary ataxias and suggest that there may be a common pathway for PKC gamma-related and polyglutamine-related neurodegeneration...
  20. pmc Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype
    James B Leverenz
    Parkinson s Disease, Mental Illness Research, Education, and Clinical Centers, Veterans Affairs Puget Sound Health Care System, Seattle, Wash, USA
    Arch Neurol 63:370-6. 2006
    ..The origin and significance of Lewy bodies and neurites (Lewy body pathology [LBP]) in Alzheimer disease (AD) are poorly understood...
  21. pmc Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease
    Carolyn M Hutter
    Department of Epidemiology, University of Washington, Seattle, WA, USA
    Eur J Neurol 15:134-9. 2008
    ..Our results suggest that UCHL1 S18Y is not a major susceptibility factor for PD in white populations although we cannot exclude the possibility that the S18Y variant exerts weak effects on risk, particularly in early-onset disease...
  22. pmc Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE
    Ellen M Wijsman
    Division of Medical Genetics, University of Washington, Seattle, Washington, United States of America
    PLoS Genet 7:e1001308. 2011
    ..We suggest that similar adjustments may also be needed for many other large multi-site studies...
  23. pmc TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3
    Ge Li
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA
    Alzheimers Dement 9:554-61. 2013
    ..This study investigates the association between TOMM40 poly-T length, age at onset, and neuropathology in individuals with Alzheimer's disease (AD) with the apolipoprotein E (APOE) ε3/ε3 allele...
  24. ncbi request reprint Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease
    Kiri L Brickell
    Department of Neurology, VA Puget Sound Health Care System, University of Washington, 1660 S Columbian Way, Seattle, WA 98108, USA
    Arch Neurol 63:1307-11. 2006
    ..Genetic influences on the development of late-onset Alzheimer disease (LOAD) are heterogeneous and ill defined...
  25. pmc Genetics of Alzheimer disease
    Lynn M Bekris
    Department of Medicine, University of Washington School of Medicine, Seattle, WA 98108, USA
    J Geriatr Psychiatry Neurol 23:213-27. 2010
    ..Identification of these genes has led to a number of animal models that have been useful to study the pathogenesis underlying AD. In this article, we provide an overview of the clinical and genetic features of AD...
  26. ncbi request reprint Lewy body pathology in late-onset familial Alzheimer's disease: a clinicopathological case series
    Debby W Tsuang
    Mental Illness Research, Education, and Clinical Centers, Veteran Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    J Alzheimers Dis 9:235-42. 2006
    ..Lewy body pathology (LBP) is a common finding in Alzheimer's disease (AD), but the pathophysiology for this coexistent pathology remains unclear...
  27. pmc Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2
    Suman Jayadev
    Department of Neurology, University of Washington, 1660 S Columbian Way, 182 GRECC, Seattle, WA 98108, USA
    Brain 133:1143-54. 2010
    ..A novel premature termination mutation supports loss of function or haploinsufficiency as pathogenic mechanisms in presenilin 2 associated Alzheimer's disease...
  28. pmc Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset
    Wei Zhao
    Department of Biostatistics, University of Washington, Seattle, WA 98195, USA
    Am J Med Genet B Neuropsychiatr Genet 162:201-12. 2013
    ..12. These results provide the first independent confirmation of an AD age-at-onset locus on chromosome 6 and suggest that further efforts towards identifying the underlying causal locus or loci are warranted...
  29. ncbi request reprint A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter
    Zoran Brkanac
    Department of Psychiatry, University of Washington, Seattle, WA 98195 7720, USA
    Arch Neurol 59:1291-5. 2002
    ..Although molecular genetic studies have so far implicated 16 loci in the etiology of these diseases, approximately 30% of families with SCAs remain unlinked...
  30. pmc Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21
    Wendy H Raskind
    Department of Medicine, University of Washington School of Medicine, Seattle, Washington 98195 7720, USA
    Am J Med Genet B Neuropsychiatr Genet 150:570-4. 2009
    ..Identification of additional families with FDFM may narrow the critical region and facilitate the choice of candidate genes for further analysis...
  31. pmc Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease
    Michael R Cassidy
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA
    Alzheimers Dement 4:406-13. 2008
    ..The purpose of this study was to compare the psychological impact of using these two different types of genetic information to disclose genetic risk for AD to family members of affected patients...
  32. pmc CDC7 inhibition blocks pathological TDP-43 phosphorylation and neurodegeneration
    Nicole F Liachko
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA Department of Medicine, University of Washington, Seattle, WA
    Ann Neurol 74:39-52. 2013
    ..Dual phosphorylation of TDP-43 at serines 409/410 (S409/410) drives neurotoxicity in disease models; therefore, TDP-43-specific kinases are candidate targets for intervention...
  33. pmc Familial dementia with Lewy bodies with an atypical clinical presentation
    Lauren T Bonner
    Department of Veterans Affairs Northwest Network Mental Illness Research, Education, and Clinical Center, University of Washington, Seattle 98108, USA
    J Geriatr Psychiatry Neurol 16:59-64. 2003
    ..Family history revealed 7 relatives with a history of dementia including 4 with possible or probable DLB. This case is unique because of the FTLD-like presentation, positive family history of dementia, and autopsy confirmation of DLB...
  34. pmc Upregulated function of mitochondria-associated ER membranes in Alzheimer disease
    Estela Area-Gomez
    Department of Neurology, Columbia University Medical Center, New York, NY, USA
    EMBO J 31:4106-23. 2012
    ..We propose that upregulated MAM function at the ER-mitochondrial interface, and increased cross-talk between these two organelles, may play a hitherto unrecognized role in the pathogenesis of AD...
  35. pmc Evidence for a novel late-onset Alzheimer disease locus on chromosome 19p13.2
    Ellen M Wijsman
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195 7720, USA
    Am J Hum Genet 75:398-409. 2004
    ..We also obtained weak evidence of linkage to chromosome 10 at the same location as a previous report of linkage but found no evidence for linkage of LOFAD age-at-onset loci to chromosomes 9, 12, or 21...
  36. doi request reprint Conjugal Alzheimer disease: risk in children when both parents have Alzheimer disease
    Suman Jayadev
    Department of Neurology, University of Washington, Seattle, USA
    Arch Neurol 65:373-8. 2008
    ..There is limited information regarding children's risk of Alzheimer disease (AD) if both parents are affected...
  37. pmc Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases
    Giovanni Coppola
    Department of Neurology, University of California, Los Angeles, CA, USA
    Hum Mol Genet 21:3500-12. 2012
    ....
  38. pmc A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
    Katherine E Hekman
    Department of Neurology, Institute for Genomics and Systems Biology, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 21:5472-83. 2012
    ..Our results present a compelling candidate mutation and mechanism for the pathogenesis of SCA26 and further support the role of proteostatic disruption in neurodegenerative diseases...
  39. pmc Novel antibody capture assay for paraffin-embedded tissue detects wide-ranging amyloid beta and paired helical filament-tau accumulation in cognitively normal older adults
    Nadia Postupna
    Department of Pathology, University of Washington, Seattle, USA
    Brain Pathol 22:472-84. 2012
    ....
  40. pmc Detergent-insoluble EAAC1/EAAT3 aberrantly accumulates in hippocampal neurons of Alzheimer's disease patients
    Kevin Duerson
    Geriatric Research Education and Clinical Center, VA Medical Center, 1660 S Columbian Way, Seattle, WA 98108, USA
    Brain Pathol 19:267-78. 2009
    ....
  41. pmc IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23
    Zoran Brkanac
    Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA 98104, USA
    Am J Hum Genet 84:692-7. 2009
    ..Mutation analysis of IFRD1 in additional patients with similar phenotypes is needed for demonstration of causality and further evaluation of its importance in neurological diseases...
  42. doi request reprint Hereditary ataxias: overview
    Suman Jayadev
    Department of Neurology, University of Washington, Seattle, Washington, USA
    Genet Med 15:673-83. 2013
    ..However, the best testing strategy is based on assessing relative frequencies, ethnic predilections, and recognition of associated phenotypic features such as seizures, visual loss, or associated movement abnormalities...
  43. pmc Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5
    Ying Zhang Chen
    Department of Medicine Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Arch Neurol 69:630-5. 2012
    ..In a 5-generation family of German ancestry, we previously mapped FDFM to chromosome band 3p21-3q21. The 72.5-Mb linkage region was too large for traditional positional mutation identification...
  44. doi request reprint The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy
    Seth D Friedman
    Department of Radiology, Seattle Children s Hospital, 4800 Sandpoint Way, Room R4488, Seattle, Washington 98105, USA
    Muscle Nerve 45:500-6. 2012
    ..We used a one-step quantitative magnetic resonance imaging (MRI) method to evaluate muscle, edema, and fat in patients spanning the range of severity...
  45. pmc Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy
    Megan L Landsverk
    Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA
    Hum Mol Genet 18:1200-8. 2009
    ..This exon also encodes for a majority of the SEPT9 N-terminal proline rich region suggesting that this region plays a role in the pathogenesis of HNA...
  46. ncbi request reprint Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families
    Debby W Tsuang
    Department of Veterans Affairs Northwest Network Mental Illness Research, Education, and Clinical Center, VA Puget Sound Health Care System, 1660 S Columbian Way, Mailstop 116MIRECC, Seattle, WA 98108, USA
    Arch Neurol 59:1622-30. 2002
    ..Few families with DLB have been described with detailed clinical, pathological, and genetic assessments...
  47. doi request reprint Spinocerebellar ataxia type 14
    Dong Hui Chen
    Department of Neurology, University of Washington, Seattle, WA, USA
    Handb Clin Neurol 103:555-9. 2012
    ..A single autopsy has shown loss of cerebellar Purkinje cells. The disease is caused by mutations in the protein kinase C gamma (PKCγ, PRKCG) gene with a hotspot for mutations in exon 4. Genetic testing for SCA14 is clinically available...
  48. ncbi request reprint Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia
    Xiaohong Li
    Department of Neurology, Pritzker School of Medicine and Center for Comprehensive Care and Research on Memory Disorders, University of Chicago, 5841 S Maryland Avenue, Chicago, IL 60637, USA
    Ann Neurol 58:858-64. 2005
    ..However, the strong association between heterozygosity and PPA raises new questions about its cause and the role of PrP in other neurodegenerative diseases...
  49. pmc Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)
    Olena Korvatska
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA
    Hum Mol Genet 22:3259-68. 2013
    ..Mutations in XPDS and MRXSH alter binding sites for different splicing factors, which may explain the marked differences in age of onset and manifestations. ..
  50. ncbi request reprint Genetic factors in Alzheimer's disease
    Thomas D Bird
    University of Washington, Seattle, USA
    N Engl J Med 352:862-4. 2005
  51. pmc LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago
    Cyrus P Zabetian
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Am J Hum Genet 79:752-8. 2006
    ..Our data suggest two separate founding events for G2019S in these populations, beginning at a time that coincides with the Jewish Diasporas...
  52. ncbi request reprint Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32
    Zoran Brkanac
    Department of Psychiatry, University of Washington School of Medicine, Seattle, Washington 98108, USA
    Am J Med Genet 114:450-7. 2002
    ..Because this disorder does not easily fall into either the SCA or HSN categories, it is designated sensory/motor neuropathy with ataxia (SMNA)...
  53. ncbi request reprint Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity
    Dong Hui Chen
    Department of Neurology, University of Washington, Seattle, WA, USA
    J Neurol Sci 196:91-6. 2002
    ..These findings expand the phenotype of and demonstrate further evidence for the heterogeneity in the CCM syndrome...
  54. ncbi request reprint Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes
    Julie A Hodapp
    Department of Rehabilitation Medicine, School of Medicine, University of Washington, Seattle, USA
    Arch Neurol 63:112-7. 2006
    ..Mutations in the peripheral myelin protein 22 (PMP-22) gene are the most common cause of Charcot-Marie-Tooth neuropathy and may rarely occur in combination with other neurogenetic diseases...
  55. pmc Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects
    Dong Hui Chen
    Department of Neurology, University of Washington, Seattle, Washington, 98195
    Hum Mutat 34:1672-8. 2013
    ..The possible involvement of haploinsufficiency for GINS1, a DNA replication complex protein, in the short stature of the patient and her mother requires further studies. ..
  56. ncbi request reprint Genetics of dementia
    Debby W Tsuang
    Departments of Psychiatry and Behavioral Sciences and Epidemiology, University of Washington, Seattle, WA, USA
    Med Clin North Am 86:591-614. 2002
    ..Future clinical and molecular genetics findings hold many clinical implications. It is likely that new diagnostic and therapeutic strategies for dementing disorders are just on the horizon...
  57. pmc A patient with Huntington's disease and long-surviving fetal neural transplants that developed mass lesions
    C Dirk Keene
    Department of Pathology, Harborview Medical Center, University of Washington Medical Center, Seattle, 98104, USA
    Acta Neuropathol 117:329-38. 2009
    ..This report, for the first time, highlights the potential for graft overgrowth in a patient receiving fetal neural transplantation...
  58. ncbi request reprint SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
    Craig L Bennett
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA, USA
    Ann Neurol 55:713-20. 2004
    ..We report the expression of SIMPLE in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C...
  59. ncbi request reprint An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype
    Parvoneh Poorkaj
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA 98195, USA
    Ann Neurol 52:511-6. 2002
    ..Insoluble tau from cortical regions also contained 1N3R tau. Thus, the R5L mutation causes a progressive supranuclear palsy phenotype, presumably by a gain-of-function mechanism...
  60. ncbi request reprint Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders
    Corrine O Smith
    Department of Neurology, University of Washington, Geriatric Research Education and Clinical Center, Seattle, WA 98108, USA
    Arch Neurol 61:875-80. 2004
    ..With the exception of Huntington disease, the psychological and psychosocial impact of DNA testing for neurogenetic disorders has not been well studied...
  61. ncbi request reprint GeneTests-GeneClinics: genetic testing information for a growing audience
    Roberta A Pagon
    University of Washington, Seattle, Washington, USA
    Hum Mutat 19:501-9. 2002
    ..The use of these combined resources has grown to approximately 3,200 visits/day...
  62. pmc Familial occurrence of dementia with Lewy bodies
    Debby W Tsuang
    Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98108, USA
    Am J Geriatr Psychiatry 12:179-88. 2004
    ....
  63. pmc Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies
    Valerie A Street
    V M Bloedel Hearing Research Center, Department of Otolaryngology Head and Neck Surgery, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 70:244-50. 2002
    ..The epithelial membrane protein 2 gene (EMP2), which maps to chromosome 16p13.2, was evaluated as a candidate gene for CMT1C...
  64. pmc Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
    Max A Tischfield
    Department of Neurology, Children s Hospital Boston, Boston, MA 02115, USA
    Cell 140:74-87. 2010
    ..These findings demonstrate that normal TUBB3 is required for axon guidance and maintenance in mammals...
  65. pmc Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria
    Estela Area-Gomez
    Department of Neurology, Columbia University Medical Center, New York, New York, USA
    Am J Pathol 175:1810-6. 2009
    ....
  66. pmc Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease
    Hans Basun
    Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden
    Arch Neurol 65:499-505. 2008
    ..Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-beta-amyloid mutation to date causing the more typical clinical picture of Alzheimer disease...
  67. pmc Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease
    Kiri L Brickell
    Neurological Foundation of New Zealand, New Zealand
    J Neurol Neurosurg Psychiatry 78:1050-5. 2007
    ..We had the opportunity to assess the concordance and discordance of clinical presentation and neuropathology in three MZ twin pairs with AD...
  68. ncbi request reprint Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive
    Angela M Boutte
    Center for Molecular Neuroscience, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    J Alzheimers Dis 8:1-6. 2005
    ..Our results show that modification of tubulin function may contribute to intermediate or late stages in the pathogenesis of sporadic and inherited AD as well as FTDP-17...
  69. pmc TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis
    Vivianna M Van Deerlin
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Lancet Neurol 7:409-16. 2008
    ..Our aim was to investigate whether TARDBP is a candidate disease gene for familial ALS that is not associated with mutations in superoxide dismutase 1 (SOD1)...
  70. ncbi request reprint Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography
    Dilantha B Ellegala
    Department of Neurological Surgery, University of Virginia, Charlottesville, Virginia, USA
    J Neurosurg 102:242-5. 2005
    ..The authors investigated MR neurography as a possible method to characterize CMT subtypes...
  71. ncbi request reprint New gene for CMT
    Valerie A Street
    J Peripher Nerv Syst 8:206. 2003
  72. pmc Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia
    Yoshio Ikeda
    Institute of Human Genetics and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, 55455, USA
    Am J Hum Genet 75:3-16. 2004
    ....
  73. ncbi request reprint Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia
    Sian D Spacey
    Division of Neurology, Brain Research Center, University of British Columbia, Vancouver, Canada
    Arch Neurol 62:314-6. 2005
    ..Episodic ataxia type 2 (EA2) is an autosomal dominant condition that results from mutations in the CACNA1A gene. It is characterized by episodes of ataxia and nystagmus that typically last hours...
  74. ncbi request reprint Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma
    Ichiro Yabe
    Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Arch Neurol 60:1749-51. 2003
    ..Different PRKCG mutations were found in another family with SCA and in a sporadic case from the United States. Axial myoclonus was not observed in any of these US families...
  75. ncbi request reprint Functional implications of a novel EA2 mutation in the P/Q-type calcium channel
    Sian D Spacey
    Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada
    Ann Neurol 56:213-20. 2004
    ..We also tested the direct effect of acetazolamide on both wild-type and H1736L mutated P/Q-type channels and did not observe any direct action on channel properties of this pharmacological agent used to treat EA2 patients...
  76. doi request reprint Silver syndrome: The complexity of complicated hereditary spastic paraplegia
    Lewis P Rowland
    Neurology 70:1948-9. 2008
  77. ncbi request reprint Invited comments on the Shostak and Ottman review
    Thomas D Bird
    Epilepsia 47:1748-9; author reply 1755-6. 2006
  78. ncbi request reprint Ventilatory support in facioscapulohumeral muscular dystrophy
    Gregory T Carter
    Neurology 64:401; author reply 401. 2005
  79. pmc Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
    Ken Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 71:838-53. 2002
    ..In one family, junction sequences revealed a complex recombination event. Our data suggest that PLP1 deletions are likely caused by nonhomologous end joining...
  80. ncbi request reprint Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation
    Katsutoshi Furukawa
    Laboratory of Neurosciences, Gerontology Research Center, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
    J Neurochem 87:427-36. 2003
    ..Our results indicate that a tau mutation which decreases its microtubule-binding ability augments calcium influx by depolymerizing microtubules and activating adenylyl cyclase and PKA...
  81. 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...