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Article

De novo p.Glu61Ter mutation in GCH1 in a Moroccan patient with dopa-responsive dystonia: a case report.

The Pan African medical journal - 1 Jan 2024

Bouhouche Ahmed, Tamaoui Leila, Birouk Nazha

Abstract excerpt

Dopa-responsive dystonia (DRD) is a hereditary movement disorder due to a selective nigrostriatal dopamine deficiency. It is characterized by onset in childhood or adolescence with marked diurnal fluctuation with or without Parkinsonian features, and is caused by mutations in GCH1 gene. We report in this study the clinical and genetic features of the first DRD Moroccan patient. Using a gene panel sequencing, we...

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Identifiers

PMID: 38974698
DOI: 10.11604/pamj.2024.47.159.36397
PMCID: PMC11226765

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