Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.

CORDOBA MARTA; RODRIGUEZ S; GATTO EMILIA; KAUFFMAN MARCELO

NEUROLOGY

LIPPINCOTT WILLIAMS & WILKINS

Lugar: Philadelphia; Año: 2014 vol. 15 p. 287 - 288

0028-3878

Hereditary ataxias are a heterogeneous group of neurogenetic diseases characterized by progressive cerebellar degeneration and the frequent presence of other neurological symptoms. Nearly a thousand mutations mapping to 60 different loci have been recognized as the cause of this group of diseases. However, almost 50% of the cases are still genetically uncharacterized, its etiology remaining to be identified1. Diagnosis and research in rare diseases such as ataxia has been significantly improved with the recent availability of next generation sequencing technologies2. In order to expand the phenotype recently described in Ataxia due to STUB1 mutations and to illustrate the utility of clinical genomics in the diagnosis of Ataxias, we present a 23 year old patient who had ataxia plus myoclonus where Exome sequencing revealed novel compound heterozygous mutations in STUB1 gene.