Article
Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.
Parkinsonism & related disorders - 1 Feb 2016
De Rosa A, Pellegrino T, Pappatà S, Lieto M, Bonifati V, Palma V, Topa A, Santoro L, Bilo L, Cuocolo A, De Michele G
Abstract excerpt
INTRODUCTION: PARK20 is a rare autosomal recessive parkinsonism related to the SYNJ1 gene and characterized by early-onset of disease and atypical signs such as supranuclear vertical gaze palsy, dementia, dystonia, and generalized tonic-clonic seizures. OBJECTIVE: Non-motor features and cardiac sympathetic innervation were assessed in two siblings affected by parkinsonism who harboured the homozygous Arg258Gln...
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