Abstract
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.
Original language | English |
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Pages (from-to) | 1265-1267 |
Number of pages | 3 |
Journal | Movement Disorders |
Volume | 21 |
Issue number | 8 |
DOIs | |
Publication status | Published - Aug 2006 |
Keywords
- Early onset
- Familial Parkinsonism
- PARK6
- PINK1
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)