TY  - JOUR
T1  - JUvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of pink1
AU  - Leutenegger A, Salih MM, Ibáñez P, et al
Y1  - 2006/09/01
N1  - 10.1001/archneur.63.9.1257
JO  - Archives of Neurology
SP  - 1257
EP  - 1261
VL  - 63
IS  - 9
N2  - 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 particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive 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.
SN  - 0003-9942
M3  - doi: 10.1001/archneur.63.9.1257
UR  - http://dx.doi.org/10.1001/archneur.63.9.1257
ER  -