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Article

Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.

Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2003

Sekijima Yoshiki, Hashimoto Takao, Onodera Osam, Date Hidetoshi, Okano Tomomi, Naito Kosuke, Tsuji Shoji, Ikeda Shu-ichi

Abstract excerpt

A 14-year-old girl, homozygous for an insertion mutation of aprataxin (APTX), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinic...

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Source

Identifiers

PMID: 14534929
DOI: 10.1002/mds.10526

Genes

APTX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14534929-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.PMID 14534929Read ↗

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Aprataxin (APTX) gene mutations resembling multiple system atrophy.Semantic proximity Read ↗

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.Semantic proximity Read ↗

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.Semantic proximity Read ↗

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Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.Semantic proximity Read ↗

Phenotypic variability of aprataxin gene mutations.Semantic proximity Read ↗

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