NR ADWN
AU Farrer,M.; Gwinn-Hardy,K.; Hutton,M.; Hardy,J.
TI The genetics of disorders with synuclein pathology and parkinsonism
QU Human Molecular Genetics 1999; 8(10): 1901-5
PT journal article; review; review, tutorial
AB Despite being considered the archetypal non-genetic neurological disorder, genetic analysis of Parkinson's disease has shown that there are at least three genetic loci. Furthermore, these analyses have suggested that the phenotype of the pathogenic loci is wider than simple Parkinson's disease and may include Lewy body dementia and some forms of essential tremor. Identification of alpha-synuclein as the first of the loci involved in Parkinson's disease and the identification of this protein in pathological deposits in other disorders has led to the suggestion that it may share pathogenic mechanisms with multiple system atrophy, Alzheimer's disease and prion disease and that these mechanisms are related to a synuclein pathway to cell death. Finally, genetic analysis of the synuclein diseases and the tau diseases may indicate that this synuclein pathway is an alternative to the tau pathway to cell death.
ZR 61
MH Alzheimer Disease/genetics/metabolism/pathology; Human; Multiple System Atrophy/genetics/metabolism/pathology; Nerve Tissue Proteins/*genetics/*metabolism; Parkinsonian Disorders/*genetics/metabolism/*pathology; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.; Supranuclear Palsy, Progressive/genetics/metabolism/pathology; tau Proteins/genetics/metabolism
AD Department of Pharmacology and Neurology, Mayo Clinic Jacksonville, FL 32224, USA
SP englisch
PO England