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.
Tremolizzo, L., Curtò, N., Marzorati, L., Lanzani, F., Tarantino, P., Annesi, G., et al. (2011). Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?. NEUROLOGICAL SCIENCES, 32(5), 941-943 [10.1007/s10072-011-0662-9].
Early-onset SCA17 with 43 TBP repeats: expanding the phenotype?
TREMOLIZZO, LUCIO;LANZANI, FRANCESCA;FERRARESE, CARLO
2011
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.
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