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Novel features in a patient homozygous for the L347P mutation in the PINK1 gene
J Doostzadeh1, J W Tetrud, M Allen-Auerbach
1The Parkinson's Institute, 1170 Morse Avenue, Sunnyvale, CA 94089-1605, USA.
Abstract:
The purpose of this study was to assess the genotype-phenotype of PINK1 mutations. We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1. Clinically, hypo-osmia and profound diurnal variation of symptoms were identified as novel features; fluorodopa positron emission tomography revealed striking decline in striatal fluorodopa uptake. We suggest that it may be possible to clinically separate this form of Parkinsonism from dopa-responsive dystonia and Parkin-related Parkinsonism. Furthermore, as this mutation has only been reported in Filipinos (two originated from Luzon island), our results support the hypothesis of a common founder.
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