PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism

Citation
N. Shimizu et al., PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism, J NEUR TR-S, (58), 2000, pp. 19-30
Citations number
31
Categorie Soggetti
Neurosciences & Behavoir
Journal title
JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT
ISSN journal
03036995 → ACNP
Issue
58
Year of publication
2000
Pages
19 - 30
Database
ISI
SICI code
0303-6995(2000):58<19:PAAPGF>2.0.ZU;2-1
Abstract
Parkinson's disease is a common neurodegenerative disease with complex clin ical features. Recently, we idenfied a novel gene named Parkin to be respon sible for the pathogenesis of autosomal recessive juvenile parkinsonism (AR -JP). Various mutations were found in AR-JP patients of Japanese and other ethnic origins, providing a definitive evidence for the Parkin to be a caus ative gene for AR-JP. The predicted structure of Parkin protein and its mut ation provide important clues for studying the functional role of the Parki n protein in leading to selective degeneration of nigral neurons in the bra ins of AR-JP patients.