Article
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
Archives of neurology - 1 Sept 2006
Leutenegger Anne-Louise, Salih Mustafa A M, Ibáñez Pablo, Mukhtar Maowia M, Lesage Suzanne, Arabi Ali, Lohmann Ebba, Dürr Alexandra, Ahmed Ammar E M, Brice Alexis
Abstract excerpt
BACKGROUND: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism. OBJECTIVE: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. DESIGN: Clinical and genetic study. SETTING: Collaborative study. Patients Eight patients from Sudan with...
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