Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism

Citation
Y. Kuroda et al., Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism, J NE NE PSY, 71(2), 2001, pp. 231-234
Citations number
14
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
ISSN journal
0022-3050 → ACNP
Volume
71
Issue
2
Year of publication
2001
Pages
231 - 234
Database
ISI
SICI code
0022-3050(200108)71:2<231:HDMOTP>2.0.ZU;2-A
Abstract
Autosomal recessive juvenile parkinsonism (AR-JP) is characterised by homog enous clinical features and selective degeneration of nigral neurons. Recen t progress in molecular genetic analyses of AR-JP has led to the identifica tion of a novel ubiquitin-like protein, pat-kin, whose precise function sti ll remains to be elucidated. Two unrelated Japanese families had levodopa u nresponsive parkinsonism complicated with cerebellar and pyramidal tract dy sfunction. Genetic analysis of the parkin gene and mRNA in both families di sclosed identical mutations with large deletions extending from exons 3 to 4. These results suggest that the parkin protein possesses an important fun ction not only in the substantia nigra but also in extranigral neurons of t he CNS and that the phenotype of multiple system dysfunction can also be a complication in patients with AR-JP due to variations in sites of or change s in functions by parkin mutation.