SCA2 may present as levodopa-responsive parkinsonismHaydeh 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...
Disease-related and genetic correlates of psychotic symptoms in Parkinson's diseaseStewart A Factor
Department of Neurology, Emory University School of Medicine, 1841 Clifton Road NE, Atlanta, GA 30329, USA
Mov Disord 26:2190-5. 2011
..We demonstrated an association with depression and duration of disease, both of which were inconsistently related in previous studies, and confirmed the association with age, cognitive dysfunction, and sleep disorders...
- 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...
- Postural instability/gait disturbance in Parkinson's disease has distinct subtypes: an exploratory analysis
Stewart A Factor
Emory University School of Medicine, Department of Neurology, 1841 Clifton Road NE, Atlanta, GA 30329, USA
J Neurol Neurosurg Psychiatry 82:564-8. 2011
..To test the hypothesis that postural instability with falling (PIF) and freezing of gait (FOG) are distinct subtypes of the postural instability/gait disturbance (PIGD) form of Parkinson's disease (PD)...
- Familial aggregation of Parkinson disease: a comparative study of early-onset and late-onset disease
Haydeh Payami
Department of Neurology, CR131, Oregon Health Sciences University, 3181 SW Sam Jackson Park Rd, Portland, OR 97201, USA
Arch Neurol 59:848-50. 2002
..Evidence for familial aggregation is key to whether research should focus on gene discovery or search for environmental factors...
DBH -1021C-->T does not modify risk or age at onset in Parkinson's diseaseLani 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...
- Age at onset of Parkinson disease and apolipoprotein E genotypes
Sepideh Zareparsi
Department of Neurology, Oregon Health Sciences University, Portland, Oregon 97201, USA
Am J Med Genet 107:156-61. 2002
..There was a trend for earlier onset of PD in varepsilon2varepsilon3 patients than in varepsilon3varepsilon3 patients only in the Oregon sample. In conclusion, APOE is associated with age at onset of PD...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- A linkage study of candidate loci in familial Parkinson's Disease
Karin Wirdefeldt
Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
BMC Neurol 3:6. 2003
..These loci have been implicated in familial Parkinson's disease or in syndromes with a clinical presentation that overlaps with parkinsonism, as well as potentially in the pathogenesis of the disease...
- parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease
P Poorkaj
Geriatric Research Education Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle Division, Seattle, WA, USA
Am J Med Genet A 129:44-50. 2004
..It is unclear whether heterozygous mutations are pathogenic. parkin-based diagnosis and counseling require a better understanding of the mode of inheritance, penetrance, and carrier frequencies...
- Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease
Katrina A B Goddard
Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106 7281, USA
Neurogenetics 5:121-8. 2004
..002 and 0.08 for two-locus haplotypes. These results support the presence of a susceptibility locus for AD in the vicinity of CST3 for very elderly subjects with AD...
- Independent predictors of cognitive decline in healthy elderly persons
Scott Marquis
Department of Medicine Neurology, University of Alberta, 2E3 08, 8440 112th St, Edmonton, Alberta, Canada T6G 2B7
Arch Neurol 59:601-6. 2002
..Several studies have shown that individually memory, hippocampal volume, and motor measures presage the onset of dementia. It is unclear if these independently contribute to the prediction of mild cognitive impairment...
- 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...
- Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism
Parvoneh Poorkaj
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA
BMC Neurol 5:4. 2005
..A subset of familial PD exhibits anticipation, the cause of which is unknown. The aim of this study was to determine if anticipation was due to parkin mutation dosage...
- 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...
- 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...
- Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations
Jennifer Kachergus
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Am J Hum Genet 76:672-80. 2005
..Our work highlights the fact that a proportion of clinically typical, late-onset PD cases have a genetic basis...
- Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease
Julie P Taylor
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
Neurogenetics 8:95-102. 2007
..Comparison of evolutionary interspecies sequences of LRRK1 and LRRK2 suggests they diverged from a common founder gene...
- False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy
Stewart A Factor
Ann Neurol 57:462-3. 2005
- 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
..INTERPRETATION: Our results do not lend support to the finding that the 13 SNPs reported in the original genome-wide association study are genetic susceptibility factors for Parkinson's disease...
- Apolipoprotein E epsilon4 and catechol-O-methyltransferase alleles in autopsy-proven Parkinson's disease: relationship to dementia and hallucinations
Richard Camicioli
University of Alberta, Edmonton, Alberta, Canada
Mov Disord 20:989-94. 2005
..Psychosis risk was not associated with ApoE4, COMT, or sex. The observation that males have increased dementia risk and the trend for ApoE4 requires confirmation in larger prospective autopsy studies...
- Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation
Denise M Kay
Mov Disord 20:1077-8. 2005
- 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...
- Analysis of the LRRK2 G2019S mutation in Alzheimer Disease
Cyrus P Zabetian
Arch Neurol 63:156-7. 2006
- 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...
