ArticleBMC medical genetics2005
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
Article in BMC medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 50 citations in OpenAlex.
- Diagnostic redirection in dementia-first spinocerebellar ataxia type 17: a family-based case report and focused literature review.Frontiers in neuroscience · 2026Article
- Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3.International journal of molecular sciences · 2025Article
- Molecular Mechanisms of Spinocerebellar Ataxia Type 17.Molecular neurobiology · 2025Review
- Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17.Cellular and molecular life sciences : CMLS · 2022Article
- Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Interferon mediated neuroinflammation in polyglutamine disease is not caused by RNA toxicity.Cell death & disease · 2020Article
- Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.Journal of genetics · 2018Article
- Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.Frontiers in cellular neuroscience · 2018Article
- The overdue promise of short tandem repeat variation for heritability.Trends in genetics : TIG · 2014Review
- Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings.Annals of Indian Academy of Neurology · 2013Article
- From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.Cerebellum (London, England) · 2013Article
- An update on Spino-cerebellar ataxias.Annals of Indian Academy of Neurology · 2013Review
- Background-dependent effects of polyglutamine variation in the Arabidopsis thaliana gene ELF3.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.BMC neurology · 2012Article
- 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 · 2011Article
- Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content.PloS one · 2011Article
- Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17.Cerebellum (London, England) · 2010Article
- Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).Cerebellum (London, England) · 2008Article
- Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.Journal of neurology · 2007Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a main transcription factor. Observed pathogenic expansions ranged from 43-63 glutamine (Gln) codons (Gln43-63). Reduced penetrance is known for Gln43-48 alleles. In the vast majority of families with SCA17 an expanded CAG repeat interrupted by a CAA CAG CAA element is inherited stably.
resultsHere, we report the first pedigree with a Gln49 allele that is a) not interrupted, b) unstable upon transmission, and c) associated with reduced penetrance or very late age of onset. The 76-year-old father of two SCA17 patients carries the Gln49 TBP allele but presents without obvious neurological symptoms. His children with Gln53 and Gln52 developed ataxia at the age of 41 and 50. Haplotype analysis of this and a second family both with uninterrupted expanded and unstable pathological SCA17 alleles revealed a common core genotype not present in the interrupted expansion of an unrelated SCA17 patient. Review of the literature did not present instability in SCA17 families with expanded alleles interrupted by the CAA CAG CAA element.
conclusionThe presence of a Gln49 SCA17 allele in an asymptomatic 76-year-old male reams the discussion of reduced penetrance and genotypes producing very late disease onset. In SCA17, uninterrupted expanded alleles of TBP are associated with repeat instability and a common founder haplotype. This suggests for uninterrupted expanded alleles a mutation mechanism and some clinical genetic features distinct from those alleles interrupted by a CAA CAG CAA element.
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