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α-Synuclein Locus Triplication Causes Parkinson's Disease
Mutations in the α-synuclein gene ( SNCA ) in the Contursi kindred ([ 1 ][1]) implicated this gene in Parkinson's disease (PD). Subsequently, α-synuclein was identified as the major component of Lewy
VPS35 mutations in Parkinson disease.
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
TLDR
Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.
Genetics of Parkinson disease: paradigm shifts and future prospects
  • M. Farrer
  • Biology, Medicine
    Nature Reviews Genetics
  • 1 April 2006
TLDR
Genetic insights provide the rationale for new strategies for prevention or therapy, and have led to animal models of disease in which these strategies can be tested.
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.
TLDR
Findings suggest a direct relation between SNCA gene dosage and disease progression, which closely resembles idiopathic Parkinson's disease, which has a late age-of-onset, progresses slowly, and in which neither cognitive decline nor dementia are prominent.
Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
TLDR
Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic multiplications have been identified as causes for autosomal‐dominantly inherited Parkinsonism.
High-resolution whole-genome association study of Parkinson disease.
TLDR
Independent replication across populations will clarify the role of the genomic loci tagged by these SNPs in conferring PD susceptibility and test a priori biological and genetic hypotheses regarding susceptibility to PD.
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