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Article

Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.

Journal of the neurological sciences - 15 Nov 2025

de Alencar Guerra Agostinho, Cavalcanti Eduardo Boiteux Uchoa, Montanaro Vinicius Viana Abreu, Hora Thiago Falcao, de Carvalho Daniel Rocha, da Silva Adriana Gonçalves, Ferreira Alessandra De La Rocque, von Glehn Felipe

Abstract excerpt

BACKGROUND: Dopa-responsive dystonia (DRD) is a rare genetic and neurotransmitter disorder also known as Segawa Disease. The guanosine triphosphate cyclohydrolase 1 (GCH1) gene variants, inherited in an autosomal dominant pattern, are the most common cause of DRD. OBJECTIVES: To describe the genetic and clinical profile of a Brazilian cohort of DRD patients. METHODS: Twenty-two patients were recruited from the...

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Identifiers

PMID: 40930003
DOI: 10.1016/j.jns.2025.123680

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GCH1
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