Premium
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism
Author(s) -
Criscuolo Chiara,
Volpe Giampiero,
De Rosa Anna,
Varrone Andrea,
Marongiu Roberta,
Mancini Pietro,
Salvatore Elena,
Dallapiccola Bruno,
Filla Alessandro,
Valente Enza Maria,
De Michele Giuseppe
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20933
Subject(s) - parkinsonism , mutation , pink1 , medicine , transmission (telecommunications) , genetics , neuroscience , psychology , biology , parkinson's disease , parkin , computer science , disease , telecommunications , gene
We analyzed the PINK1 gene in 58 patients with early‐onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good response to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission. © 2006 Movement Disorder Society