Choreo-athetosis in LRRK2 R1441C mutation: Expanding the clinical phenotype
β Scribed by Borroni, Barbara; Cotelli, Maria Sofia; Marchina, Eleonora; Filosto, Massimiliano; Premi, Enrico; Padovani, Alessandro
- Book ID
- 122474753
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 250 KB
- Volume
- 115
- Category
- Article
- ISSN
- 0303-8467
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## Abstract We report the neuropathological findings in a patient with Parkinson's disease (PD) associated with Basque R1441Gβ__LRRK2__/dardarin mutation. The patient was a man with disease onset at 68 years of age, with unilateral rest tremor; the Parkinsonism was well controlled with medication f
## Abstract The __LRRK2 R1441G__ mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine __LRRK2 R1441G__ penetrance in PD in the Bas