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Article

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 - 13 Aug 2012

Nielsen Troels Tolstrup, Mardosiene Skirmante, Løkkegaard Annemette, Stokholm Jette, Ehrenfels Susanne, Bech Sara, Friberg Lars, Nielsen Jens Kellberg, Nielsen Jørgen E

Abstract excerpt

BACKGROUND: The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular degeneration and cognitive impairment, and a subset of these disorders is caused by CAG-repeat expansions in their respective genes. The diagnosing of the SCAs is often difficult due to the...

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Identifiers

PMID: 22889412
DOI: 10.1186/1471-2377-12-73
PMCID: PMC3475097

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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