Spinocerebellar ataxia type 2: Clinical features of a pedigree displaying prominent frontal-executive dysfunction

Abstract

Background: Spinocerebellar ataxia type 2 (SCA2) is a recently delineated cause of autosomal dominant cerebellar ataxia type I. The basic clinical neurologic features of SCA2 have been described in the literature, but neuropsychological features have not, despite statements that some patients became demented. Objective: To describe the clinical and neuropsychogical features of patients from a pedigree with SCA2. Patients and Methods: We studied 8 affected members of an Australian pedigree of northern Italian origin with autosomal dominant cerebellar ataxia type I caused by SCA2. Patients underwent clinical neurologic examination and abbreviated neuropsychological testing, while some also und..