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Article

Intergenerational instability and marked anticipation in SCA-17.

Neurology - 25 Nov 2003

Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi N A, Carella M, Bruni A, Cocozza S, Casari G, Servadio A, De Michele G

Abstract excerpt

The authors describe an Italian family with autosomal dominant ataxia, dementia, psychiatric and extrapyramidal features, epilepsy, mild sensorimotor axonal neuropathy, and MRI findings of cerebral and cerebellar atrophy. A child had a distinctive presentation with onset at 3 years, growth retardation, fast progression, and early death. Molecular analysis demonstrated an expanded CAG/CAA repeat in the TBP gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14638975
DOI: 10.1212/01.wnl.0000094123.09098.a0

Genes

TBP

Provenance

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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