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Article

SOD2 as a potential modifier of X-linked adrenoleukodystrophy clinical phenotypes.

Journal of neurology - 1 Jul 2012

Brose Rebecca Deering, Avramopoulos Dimitri, Smith Kirby D

Abstract excerpt

X-linked adrenoleukodystrophy (XALD), a neurological disorder caused by mutations in the peroxisomal membrane protein gene ABCD1, presents as a rapidly progressing, inflammatory cerebral demyelination (cerebral cases) or a slowly progressing, distal axonopathy (non-cerebral cases). Specific ABCD1 defects do not explain this significant phenotypic variation. Patients have increased plasma and tissue very long...

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Source

Identifiers

PMID: 22218650
DOI: 10.1007/s00415-011-6371-8

Genes

SOD2
ABCD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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