Cyrus Zabetian

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease
    Cyrus P Zabetian
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Ann Neurol 62:137-44. 2007
  2. ncbi request reprint A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations
    C P Zabetian
    Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA
    Neurology 65:741-4. 2005
  3. 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
  4. ncbi request reprint Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease
    C P Zabetian
    Department of Neurology, University of Washington School of Medicine, Seattle, USA
    Neurology 67:697-9. 2006
  5. pmc LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease
    Cyrus P Zabetian
    Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
    Mov Disord 24:1034-41. 2009
  6. pmc Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain
    Ignacio F Mata
    Geriatric Research Education and Clinical Center S 182, Veterans Affairs Puget Sound Health Care System, 1660 South Columbian Way, Seattle, WA 98108, USA
    Neurogenetics 10:347-53. 2009
  7. doi request reprint LRRK2 mutations in patients with Parkinson's disease from Peru and Uruguay
    Ignacio F Mata
    Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA 98108, USA
    Parkinsonism Relat Disord 15:370-3. 2009
  8. 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
  9. doi request reprint Application of targeted quantitative proteomics analysis in human cerebrospinal fluid using a liquid chromatography matrix-assisted laser desorption/ionization time-of-flight tandem mass spectrometer (LC MALDI TOF/TOF) platform
    Sheng Pan
    Department of Pathology, University of Washington, Seattle, Washington 98195, USA
    J Proteome Res 7:720-30. 2008
  10. pmc SNCA variant associated with Parkinson disease and plasma alpha-synuclein level
    Ignacio F Mata
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Mailstop S 182, 1660 S Columbian Way, Seattle, WA 98108, USA
    Arch Neurol 67:1350-6. 2010

Detail Information

Publications37

  1. pmc Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease
    Cyrus P Zabetian
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    Ann Neurol 62:137-44. 2007
    ..We sought to replicate these findings...
  2. ncbi request reprint A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations
    C P Zabetian
    Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA
    Neurology 65:741-4. 2005
    ..6%) subjects, including two heterozygous for new putative pathogenic variants (R1441H, IVS31 + 3A-->G). These data confirm the important contribution of LRRK2 to PD susceptibility in a clinic-based population...
  3. 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...
  4. ncbi request reprint Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease
    C P Zabetian
    Department of Neurology, University of Washington School of Medicine, Seattle, USA
    Neurology 67:697-9. 2006
    ..This suggests that G2019S originated from separate founders in Europe and Japan and is more widely dispersed than previously recognized...
  5. pmc LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease
    Cyrus P Zabetian
    Department of Neurology, University of Washington School of Medicine, Seattle, Washington, USA
    Mov Disord 24:1034-41. 2009
    ..However, LRRK2 mutations appear to be rare among Japanese patients with PD...
  6. pmc Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain
    Ignacio F Mata
    Geriatric Research Education and Clinical Center S 182, Veterans Affairs Puget Sound Health Care System, 1660 South Columbian Way, Seattle, WA 98108, USA
    Neurogenetics 10:347-53. 2009
    ..We hypothesize that R1441G originated in the Basque population and that dispersion of the mutation then occurred through short-range gene flow that was largely limited to nearby regions in Spain...
  7. doi request reprint LRRK2 mutations in patients with Parkinson's disease from Peru and Uruguay
    Ignacio F Mata
    Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, WA 98108, USA
    Parkinsonism Relat Disord 15:370-3. 2009
    ..Our data add to a growing body of evidence indicating that LRRK2 mutations are widely distributed across South America but might differ by region in prevalence...
  8. 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...
  9. doi request reprint Application of targeted quantitative proteomics analysis in human cerebrospinal fluid using a liquid chromatography matrix-assisted laser desorption/ionization time-of-flight tandem mass spectrometer (LC MALDI TOF/TOF) platform
    Sheng Pan
    Department of Pathology, University of Washington, Seattle, Washington 98195, USA
    J Proteome Res 7:720-30. 2008
    ....
  10. pmc SNCA variant associated with Parkinson disease and plasma alpha-synuclein level
    Ignacio F Mata
    Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Mailstop S 182, 1660 S Columbian Way, Seattle, WA 98108, USA
    Arch Neurol 67:1350-6. 2010
    ..A functional repeat polymorphism in the SNCA promoter (REP1) conveys susceptibility for Parkinson disease (PD). There is also increasing evidence that single-nucleotide polymorphisms (SNPs) elsewhere in the gene are associated with PD risk...
  11. 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...
  12. pmc The genetics of Parkinson disease
    Lynn M Bekris
    Geriatric Research, Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA 98108, USA
    J Geriatr Psychiatry Neurol 23:228-42. 2010
    ..The function of these genes and their contribution to PD pathogenesis remain to be fully elucidated. The prevalence, incidence, clinical manifestations, and genetic components of PD are discussed in this review...
  13. pmc Association between the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1) S18Y variant and Parkinson's Disease: a HuGE review and meta-analysis
    Margaret Ragland
    Department of Epidemiology, University of Washington, Center for Genomics and Public Health, Box 354921, 6200 NE 74th Street, Building 29, Suite 250, Seattle, WA 98115, USA
    Am J Epidemiol 170:1344-57. 2009
    ....
  14. 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...
  15. pmc DBH -1021C-->T does not modify risk or age at onset in Parkinson's disease
    Lani S Chun
    Department of Neurology, University of Washington School of Medicine, Seattle, WA 98108, USA
    Ann Neurol 62:99-101. 2007
    ..Furthermore, we found no evidence for an effect of genotype on age at onset among patients. Our findings argue against DBH -1021C-->T as a risk factor or age at onset modifier in PD...
  16. pmc DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease
    Zhen Hong
    Department of Pathology, University of Washington School of Medicine, HMC Box 359635, 325 9th Avenue, Seattle, WA 98104, USA
    Brain 133:713-26. 2010
    ..We have demonstrated that total DJ-1 and alpha-synuclein in human cerebrospinal fluid are helpful diagnostic markers for Parkinson's disease, if variables such as blood contamination and age are taken into consideration...
  17. pmc Significance and confounders of peripheral DJ-1 and alpha-synuclein in Parkinson's disease
    Min Shi
    Department of Pathology, University of Washington School of Medicine, Seattle, WA 98104, USA
    Neurosci Lett 480:78-82. 2010
    ..In conclusion, unlike in cerebrospinal fluid, total DJ-1 or alpha-synuclein in plasma alone is not useful as biomarkers for Parkinson's disease diagnosis or progression/severity...
  18. ncbi request reprint Combined effects of smoking, coffee, and NSAIDs on Parkinson's disease risk
    Karen M Powers
    Department of Environmental and Occupational Health Sciences, School of Public Health and Community Medicine, University of Washington, Seattle, Washington, USA
    Mov Disord 23:88-95. 2008
    ..13, 95% CI = 0.06-0.29). Whether this finding reflects true biologic protection needs to be investigated...
  19. doi request reprint Exploring gene-environment interactions in Parkinson's disease
    Colin C McCulloch
    Applied Statistics Laboratory, General Electric Global Research Center, Niskayuna, NY, USA
    Hum Genet 123:257-65. 2008
    ..The novel findings of this study that warrant replication are the evidence for interaction of coffee with APOE, and of smoking with REP1 on PD risk...
  20. doi request reprint Genetic association between alpha-synuclein and idiopathic Parkinson's disease
    Denise M Kay
    New York State Department of Health, Division of Genetic Disorders, Wadsworth Center, Albany, New York 12208, USA
    Am J Med Genet B Neuropsychiatr Genet 147:1222-30. 2008
    ..1 for 261/261 to 59.4 +/- 11.5 for 257/257, displaying a trend of decreasing onset age with increasing allele size (P = 0.055). Genetic variation in SNCA and its regulatory regions play an important role in both familial and sporadic PD...
  21. pmc Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    Daniel G Healy
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
    Lancet Neurol 7:583-90. 2008
    ..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..
  22. ncbi request reprint Genotypic and haplotypic associations of the DBH gene with plasma dopamine beta-hydroxylase activity in African Americans
    Yi lang Tang
    Department of Psychiatry, Yale University School of Medicine and VA Connecticut Healthcare System, New Haven, CT, USA
    Eur J Hum Genet 15:878-83. 2007
    ..0025 and 0.0036, respectively). The data support the validity of prior reported associations and underscore the importance of analyzing multiple SNPs across DBH in future association studies examining disease and biochemical phenotypes...
  23. pmc The structure of linkage disequilibrium at the DBH locus strongly influences the magnitude of association between diallelic markers and plasma dopamine beta-hydroxylase activity
    Cyrus P Zabetian
    Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA
    Am J Hum Genet 72:1389-400. 2003
    ..These results provide a direct example of the potential value of constructing a haplotype map of the human genome prior to embarking on large-scale association studies...
  24. ncbi request reprint Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy
    Sonhae Cho
    Molecular Neurobiology Laboratory, McLean Hospital, Harvard Medical School, Belmont, Massachusetts 02478, USA
    Am J Med Genet A 120:234-6. 2003
    ..In addition, no DBH mutation was found that distinguished autonomic disease patients from controls, suggesting that genetic variants of the DBH gene are not associated with the autonomic diseases OI, PAF, and MSA...
  25. ncbi request reprint A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans
    Cyrus P Zabetian
    Am J Med Genet A 123:190-2. 2003
  26. ncbi request reprint Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation
    Denise M Kay
    Mov Disord 20:1077-8. 2005
  27. ncbi request reprint Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency
    Chun Hyung Kim
    Molecular Neurobiology Laboratory, McLean Hospital, Harvard Medical School, Belmont, Massachusetts, USA
    Am J Med Genet 108:140-7. 2002
    ..Patient 2 carries missense mutations in exons 1 and 6 residing in cis. We propose that NE deficiency is an autosomal recessive disorder resulting from heterogeneous molecular lesions at DBH...
  28. ncbi request reprint Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics
    Denise M Kay
    Genomics Institute, Wadsworth Center, New York State Department of Health, Albany, 12201, USA
    Mov Disord 21:519-23. 2006
    ..Age at onset of mutation carriers ranged from 28 to 71 years. Mutation carriers were clinically indistinguishable from idiopathic PD. LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to date...
  29. ncbi request reprint A single nucleotide polymorphism at DBH, possibly associated with attention-deficit/hyperactivity disorder, associates with lower plasma dopamine beta-hydroxylase activity and is in linkage disequilibrium with two putative functional single nucleotide pol
    Yilang Tang
    Department of Psychiatry, Yale University School of Medicine and VA Connecticut Healthcare System, New Haven, Connecticut, USA
    Biol Psychiatry 60:1034-8. 2006
    ..We tested whether 1) SNP2 associates with pDbetaH; and 2) whether linkage disequilibrium (LD) between SNP2 and the other SNPs explains that association...
  30. ncbi request reprint Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
    Lianna Ishihara
    Department of Public Health and Primary Care, University of Cambridge, Cambridge, England
    Arch Neurol 63:1250-4. 2006
    ..The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD)...
  31. ncbi request reprint Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson's disease
    Denise M Kay
    Wadsworth Center, New York State Department of Health, Albany, NY 12201 2002, USA
    Genet Test 10:221-7. 2006
    ..Test results can have psychological, social, and economical ramifications; thus, proper counseling is essential...
  32. pmc Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study
    Alexis Elbaz
    INSERM, Unit 708, Paris, France
    Lancet Neurol 5:917-23. 2006
    ..Small-scale replication studies were largely non-confirmatory, but a meta-analysis that included data from the original study could not exclude all SNP associations, leaving relevance of several markers uncertain...
  33. ncbi request reprint Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients
    Denise M Kay
    Wadsworth Center, New York State Department of Health, Albany, NY 12201 2002, USA
    Ann Neurol 61:47-54. 2007
    ..We present a comprehensive sequence analysis of parkin in control subjects...
  34. pmc Analysis of the LRRK2 G2019S mutation in Alzheimer Disease
    Cyrus P Zabetian
    Arch Neurol 63:156-7. 2006
  35. ncbi request reprint A genotype-controlled analysis of plasma dopamine beta-hydroxylase in healthy and alcoholic subjects: evidence for alcohol-related differences in noradrenergic function
    Michael D Köhnke
    University Hospital of Psychiatry and Psychotherapy, Tubingen University Hospital, Tubingen, Germany
    Biol Psychiatry 52:1151-8. 2002
    ..A recent study demonstrated a strong association between variance in plasma DbetaH activity and a novel polymorphism (DBH-1021C-->T) at the structural locus (DBH) encoding DbetaH protein...
  36. ncbi request reprint Genotype-controlled analysis of plasma dopamine beta-hydroxylase activity in psychotic unipolar major depression
    Joseph F Cubells
    Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut 06516, USA
    Biol Psychiatry 51:358-64. 2002
    ..Plasma DbetaH is under genetic control by the structural locus encoding DbetaH protein, DBH. This study tested the hypothesis that diagnosis-specific allelic variation at DBH accounts for lower plasma DbetaH in UDPF...
  37. ncbi request reprint Haplotype-controlled analysis of the association of a non-synonymous single nucleotide polymorphism at DBH (+ 1603C --> T) with plasma dopamine beta-hydroxylase activity
    Yilang Tang
    Department of Psychiatry, Yale University School of Medicine and VA Connecticut Healthcare System, West Haven, Connecticut
    Am J Med Genet B Neuropsychiatr Genet 139:88-90. 2005
    ..These results suggest that altered homospecific activity of the enzyme can contribute to variation in pDbetaH. This conclusion informs how associations between DBH and psychiatric disorders should be approached. (c) 2005 Wiley-Liss, Inc...

Research Grants3

  1. DBH as a Modifying Gene in Neurodegenerative Diseases
    Cyrus Zabetian; Fiscal Year: 2006
    The applicant, Dr. Cyrus Zabetian, has spent the past three years as a postdoctoral fellow at Yale University/ VACHS. He will join the neurology faculty at the University of Washington next year where his future mentors, Drs...
  2. Using Multiplex Families to map Genes that Modify Susceptibility and Age at Onset
    Cyrus Zabetian; Fiscal Year: 2009
    ..This work has the potential to discover a new disease gene(s) which could provide important insights into the pathogenesis of PD that ultimately translate into improved strategies for diagnosis, prevention, and treatment. ..
  3. Using Multiplex Families to map Genes that Modify Susceptibility and Age at Onset
    Cyrus P Zabetian; Fiscal Year: 2010
    ..This work has the potential to discover a new disease gene(s) which could provide important insights into the pathogenesis of PD that ultimately translate into improved strategies for diagnosis, prevention, and treatment. ..