Late onset Alexander’s disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene

Abstract

Sirs, Alexander’s disease (AD) is a rare genetic disorder caused by mutations in the glial fibrillary acid protein (GFAP) gene characterized by a relentlessly progressive neurological decline in children and infants. In contrast, the clinical course of adult onset forms of AD (AOAD) is usually more protracted and the clinical presentations vary widely. Here we present a case of late onset cerebellar ataxia with marked atrophy of the lower brain stem and the medulla on magnetic resonance imaging (MRI). Molecular genetic analysis revealed a novel missense mutation (c. 1148C [ T, p. T383I) in the GFAP gene further broadening the spectrum of clinical and MRI presentations of