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

Neurology. 2014 Jul 15;83(3):287-8. doi: 10.1212/WNL.0000000000000600. Epub 2014 Jun 13.

Authors

Marta Cordoba¹, Sergio Rodriguez-Quiroga¹, Emilia Mabel Gatto¹, Agustín Alurralde¹, Marcelo Andrés Kauffman²

Affiliations

¹ From the Hospital JM Ramos Mejia (M.C., S.R.-Q., M.A.K.), CONICET, Buenos Aires; Instituto Neurociencias de Buenos Aires (INEBA) (E.M.G.); and Hospital Caleta Olivia (A.A.), Santa Cruz, Argentina.
² From the Hospital JM Ramos Mejia (M.C., S.R.-Q., M.A.K.), CONICET, Buenos Aires; Instituto Neurociencias de Buenos Aires (INEBA) (E.M.G.); and Hospital Caleta Olivia (A.A.), Santa Cruz, Argentina. marcelokauffman@gmail.com.

PMID: 24928119
DOI: 10.1212/WNL.0000000000000600

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Ataxia / complications
Ataxia / genetics*
Humans
Male
Mutation / genetics*
Myoclonus / complications
Myoclonus / genetics*
Ubiquitin-Protein Ligases / genetics*
Young Adult

Substances

STUB1 protein, human
Ubiquitin-Protein Ligases