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Article

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Feb 2016

Ogaki Kotaro, Koga Shunsuke, Aoki Naoya, Lin Wenlang, Suzuki Kinuko, Ross Owen A, Dickson Dennis W

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is caused by ABCD1 mutations. A cerebello-brainstem dominant form that mainly involves the cerebellum and brainstem is summarized in a review of the literature, with autopsy-confirmed cases exceedingly rare. We report a 69-year-old White man who was diagnosed with this rare disorder and describe neuropathologic, ultrastructural and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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

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Source

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Identifiers

PMID: 26227820
DOI: 10.1111/neup.12230
PMCID: PMC4724231

Genes

ABCD1

Variants

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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