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1. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Author

Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, and Rizzu P

Subjects
Adult, Diagnosis, Differential, Female, Heterozygote, Humans, Intellectual Disability diagnosis, Intellectual Disability physiopathology, Male, Muscle Spasticity diagnosis, Muscle Spasticity physiopathology, Optic Atrophy diagnosis, Optic Atrophy physiopathology, Pedigree, Spinocerebellar Ataxias diagnosis, Spinocerebellar Ataxias physiopathology, Family, Intellectual Disability genetics, Muscle Spasticity genetics, Mutation, Optic Atrophy genetics, Spinocerebellar Ataxias genetics, Ubiquitin-Protein Ligases genetics
Published
2015
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