Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

Abstract excerpt

Autosomal recessive early-onset parkinsonism is clinically and genetically heterogeneous. Mutations of three genes,PRKN, PINK1, andDJ-1cause pure phenotypes usually characterized by levodopa-responsive Parkinson's disease. By contrast, mutations of other genes, includingATP13A2, PLA2G6, FBXO7, DNAJC6, SYNJ1, VPS13C, andPTRHD1, cause rarer, more severe diseases with a poor response to levodopa, generally with...

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