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Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
alpha-Synuclein locus triplication causes Parkinson's disease.
α-Synuclein Locus Triplication Causes Parkinson's Disease
Mutations in the α-synuclein gene ( SNCA ) in the Contursi kindred ([ 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.
- E. Sidransky, M. Nalls, +59 authors S. G. Ziegler
- MedicineThe New England journal of medicine
- 22 October 2009
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.
LRRK2 in Parkinson's disease: protein domains and functional insights
Genetics of Parkinson disease: paradigm shifts and future prospects
- M. Farrer
- Biology, MedicineNature Reviews Genetics
- 1 April 2006
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.
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
- S. Appel-Cresswell, C. Vilariño-Gúell, +12 authors M. Farrer
- Biology, MedicineMovement disorders : official journal of the…
- 1 June 2013
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.
- D. Maraganore, M. de Andrade, +7 authors D. Ballinger
- Biology, MedicineAmerican journal of human genetics
- 1 November 2005
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.