Journal article

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)

S Furtado, H Payami, PJ Lockhart, M Hanson, JG Nutt, AA Singleton, A Singleton, J Bower, RJ Utti, TD Bird, R de la Fuente-Fernandez, Y Tsuboi, ML Klimek, O Suchowersky, J Hardy, DB Calne, ZK Wszolek, M Farrer, K Gwinn-Hardy, AJ Stoessl

Movement Disorders | WILEY | Published : 2004

Abstract

Spinocerebellar ataxia type 2 (SCA2) has been recognized recently as an uncommon cause of parkinsonism, an alternate presentation to the typical cerebellar disorder. This research review summarizes the existing literature on parkinsonism-predominant presentation SCA2 and presents new clinical cases of patients with this condition. Various phenotypes are noted in this subtype of SCA2, inclulng parkinsonism indistinguishable from idiopathic Parkinson's disease (PD), parkinsonism plus ataxia, motor neuron disease, and postural tremor. In several kindreds with multiple affected family members, the SCA2 expansion segregated with disease; in addition, several single cases of parkinsonism with and ..

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University of Melbourne Researchers