title: Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?
abstract: 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 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.
authors.affiliation: Department of Neurology, S. Gerardo Hospital, Monza, MB, Italy. lucio.tremolizzo@unimib.it
authors.forename: L
authors.initials: L
authors.lastname: Tremolizzo
authors.forename: N A
authors.initials: NA
authors.lastname: Curtò
authors.forename: L
authors.initials: L
authors.lastname: Marzorati
authors.forename: F
authors.initials: F
authors.lastname: Lanzani
authors.forename: P
authors.initials: P
authors.lastname: Tarantino
authors.forename: G
authors.initials: G
authors.lastname: Annesi
authors.forename: C
authors.initials: C
authors.lastname: Ferrarese
mesh_terms: D000328:Adult; D000483:Alleles; D001259:Ataxia / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012640:Seizures / Q000235:genetics*; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D035181:TATA-Box Binding Protein; C509817:TBP protein, human