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The importance of ATP13A2 (PARK9) in Parkinson's disease (PD) has emerged with the discovery that mutations in this gene cause Kufor‐Rakeb syndrome, an autosomal recessive, juvenile‐onset form of parkinsonism associated with the additional clinical triad of spasticity, supranuclear gaze palsy, and dementia. Eleven independent kindreds with homozygous or compound heterozygous ATP13A2 mutations have...
Background:Mutations in parkin have been associated with autosomal recessive early‐onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin.
Methods:The proband and her parents were clinically assessed. Mutation analysis was performed using genomic DNA and complementary DNA. The protein expression of Parkin and Mitofusin 2 was examined...
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