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Article

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Neurology - 18 Nov 2014

Wolf Nicole I, Vanderver Adeline, van Spaendonk Rosalina M L, Schiffmann Raphael, Brais Bernard, Bugiani Marianna, Sistermans Erik, Catsman-Berrevoets Coriene, Kros Johan M, Pinto Pedro Soares, Pohl Daniela, Tirupathi Sandya, Strømme Petter, de Grauw Ton, Fribourg Sébastien, Demos Michelle, Pizzino Amy, Naidu Sakkubai, Guerrero Kether, van der Knaap Marjo S, Bernard Geneviève

Abstract excerpt

OBJECTIVE: To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B. METHODS: We performed a multinational cross-sectional observational study of the clinical, radiologic, and molecular characteristics of 105 mutation-proven cases. RESULTS: The majority of patients...

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Identifiers

PMID: 25339210
DOI: 10.1212/WNL.0000000000001002
PMCID: PMC4248461

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.PMID 25339210Read ↗

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Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.Semantic proximity Read ↗

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.Semantic proximity Read ↗

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