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Article

De novo ABCD1 gene mutation in an Indian patient with adrenoleukodystrophy.

Pediatric neurology - 1 Oct 2008

Kumar Neeraj, Shukla Pallavi, Taneja Krishna K, Kalra Veena, Bansal Surendra K

Abstract excerpt

A large number of ABCD1 gene mutations have been reported all over the world, but not previously in India. We report on the first known patient with childhood cerebral adrenoleukodystrophy and a de novo 3' splice-site mutation in this gene. Magnetic resonance imaging of the brain revealed large, confluent, hyperintense areas in the bilateral cerebral white matter, predominantly parieto-occipital, with extensions...

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Identifiers

PMID: 18805372
DOI: 10.1016/j.pediatrneurol.2008.07.006

Genes

ABCD1

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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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