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

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 carr...

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Published inNeurological sciences Vol. 32; no. 5; pp. 941 - 943
Main Authors Tremolizzo, L., Curtò, N. A., Marzorati, L., Lanzani, F., Tarantino, P., Annesi, G., Ferrarese, C.
Format Journal Article
LanguageEnglish
Published Milan Springer Milan 01.10.2011
Springer Nature B.V
Subjects
Adult
Alleles
Ataxia - genetics
Case Report
Cognition Disorders - genetics
Humans
Male
Medicine
Medicine & Public Health
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Pedigree
Phenotype
Psychiatry
Seizures - genetics
TATA-Box Binding Protein - genetics
Trinucleotide Repeat Expansion
repeats
SCA17
Incomplete penetrance
43
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Summary: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.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
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ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-011-0662-9