Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : L. Tremolizzo • N. A. Curto` • L. Marzorati • F. Lanzani • P. Tarantino • G. Annesi • C. Ferrarese
- چاپ و سال / کشور: 2011
Description
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 was performed on the patient’s entire family, identifying three asymptomatic carriers of the same allele. A neuroradiological phenotype appeared to segregate with this allele, suggesting that it may play at least a contributory role in the determination of SCA17.
Neurol Sci DOI 10.1007/s10072-011-0662-9 Received: 25 August 2010 / Accepted: 13 June 2011
