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Article

Two clinicopathological cases of a dominantly inherited, adult onset orthochromatic leucodystrophy.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2003

Letournel F, Etcharry-Bouyx F, Verny C, Barthelaix A, Dubas F

Abstract excerpt

Leucodystrophies of orthochromatic type are a heterogeneous group that occur mainly in childhood and have no known enzyme deficiency. We report here the clinicopathological features of a new family of orthochromatic leucodystrophy with three main characteristics: a probably autosomal dominant inheritance; two phenotypes based on age of onset; and very few abnormalities of white matter on MRI findings in one case....

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Identifiers

PMID: 12700318
DOI: 10.1136/jnnp.74.5.671
PMCID: PMC1738413

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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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