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Background
Complex parkinsonism is the commonest phenotype in late‐onset PLA2G6‐associated neurodegeneration.
Objectives
The aim of this study was to deeply characterize phenogenotypically PLA2G6‐related parkinsonism in the largest cohort ever reported.
Methods
We report 14 new cases of PLA2G6‐related parkinsonism and perform a systematic literature review.
Results
PLA2G6‐related parkinsonism...
Spinocerebellar ataxia type 15 and 16 (SCA15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2–3pter and subsequently full or partial deletions in the inositol 1,4,5‐triphosphate receptor type 1 (ITPR1) gene were identified in several ADCA III families that segregated with...
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