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Article

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

Journal of neurology - 1 Feb 2003

Zühlke Christine, Gehlken Ulrike, Hellenbroich Yorck, Schwinger Eberhard, Bürk Katrin

Abstract excerpt

Trinucleotide expansions in the gene for the TATA-binding protein (TBP) have recently been described in cerebellar ataxia associated with dementia, pyramidal tract and basal ganglia symptoms. Expansions above 45 repeat units are commonly considered pathological, causing SCA17. Here, we present a German kindred with four siblings affected by cerebellar ataxia, chorea and dementia. Molecular genetic analysis...

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Source

Identifiers

PMID: 12574945
DOI: 10.1007/s00415-003-0958-7

Genes

TBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?PMID 12574945Read ↗

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