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Article

Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2011

Tremolizzo L, Curtò N A, Marzorati L, Lanzani F, Tarantino P, Annesi G, Ferrarese C

Abstract excerpt

The SCA17 clinical phenotype includes characteristics associated with cerebellar and cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features. Here we describe the case of a 38-year-old male presenting with ataxia, cognitive impairment and seizures, who was found to carry 43 repeats on one allele of the TATA-binding protein (TBP) gene. Therefore, genetic analysis of TBP gene triplets...

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Identifiers

PMID: 21710129
DOI: 10.1007/s10072-011-0662-9

Genes

TBP

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