Juvenile-Onset Parkinsonism as a Result of the First Mutation in the Adenosine Triphosphate Orientation Domain of PINK1

Anne-Louise Leutenegger, Mustafa A. M. Salih, Pablo Ibáñez, Maowia M. Mukhtar, Suzanne Lesage, Ali Arabi, Ebba Lohmann, Alexandra Dürr, Ammar E. M. Ahmed, Alexis Brice
2006 Archives of Neurology  
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 earlyonset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive
more » ... sponsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.
doi:10.1001/archneur.63.9.1257 pmid:16966503 fatcat:elrwqzk6efdslf3nxn7yo6ovra