Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).

ABSTRACT:

Introduction

SCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified.

Objective

The present study was aimed at describing the clinical and neuroimaging features, and the natural history of SCA38.

Methods

We extended our clinical and brain neuroimaging data on SCA38 including 21 cases from three Italian families. All had the ELOVL5 c.689G > T (p.Gly230Val) missense mutation.

Results

Age at disease onset was in the fourth decade of life. The presenting features were nystagmus (100% of cases) and slowly progressive gait ataxia (95%). Frequent signs and symptoms included pes cavus (82%) and hyposmia (

SUBMITTER: Borroni B 

PROVIDER: S-EPMC4925464 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature