Article
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2006
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
Abstract excerpt
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...
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