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Article

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.

Yonsei medical journal - 1 Jul 2014

Kang Joon Won, Lee Sang Mi, Koo Kyo Yeon, Lee Young-Mock, Nam Hyo Suk, Quan Zhejiu, Kang Hoon-Chul

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech,...

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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: 24954351
DOI: 10.3349/ymj.2014.55.4.1157
PMCID: PMC4075381

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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