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Article

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.

Molecular genetics & genomic medicine - 1 Oct 2024

Kraoua Ichraf, Jamoussi Maha, Drissi Cyrine, Kraoua Lilia, Drunat Séverine, Benrhouma Hanene, Ben Younes Thouraya, Nagi Sonia, Abdelhak Sonia, Boespflug Tanguy Odile, Youssef-Turki Ilhem Ben, Trabelsi Mediha, Dorboz Imen

Abstract excerpt

BACKGROUND: POLIII-related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and radiological phenotype. No Tunisian studies have been published about POLIII-related leukodystrophy due to POLR3A variants. The aim of this study was to contribute to the clinical, radiological, and genetic characterization of POLR3A-related leukodystrophy in a Tunisian...

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Identifiers

PMID: 39436788
DOI: 10.1002/mgg3.70007
PMCID: PMC11495397

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