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Article

Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier.

Gene - 1 Nov 2013

Finsterer Josef, Lässer Stefan, Stöphasius Elisabeth

Abstract excerpt

OBJECTIVES: Progressive dementia is a rare phenotypic feature of female X-ALD carriers. Even rarer is the additional presence of further risk factors for dementia, such as diabetes, hypothyroidism, and hepatopathy. We report a unique female X-ALD carrier presenting with severe, progressive dementia, paraspasticity, sphincteric dysfunction, and multisystem disease. CASE REPORT: A 79 years-old female with a history...

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Share to ATP Binding Cassette Transporter, Subfamily D, Member 1

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Source

Identifiers

PMID: 23962690
DOI: 10.1016/j.gene.2013.07.073

Genes

ABCD1

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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