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Article

Phenotypic and genotypic heterogeneity in a series of cases associated with dopa-responsive dystonia.

Neurologia - 1 Jan 2026

Díaz I G, Aguilar E O, Pajarín G F, López I C, Estevez D A G, Pensado B A, Ignacio Á S

Abstract excerpt

INTRODUCTION: Dopa-responsive dystonia (DRD) includes a group of neurological disorders that manifest with lower limb dystonia and an excellent response to levodopa. Parkinsonism is commonly associated with DRD, and many cases of GCH1 gene mutations without dystonia but with evidence of nigrostriatal pathway degeneration, indistinguishable to idiopathic Parkinson's disease (PD), have been recently described. This...

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Identifiers

PMID: 41579006
DOI: 10.1016/j.nrleng.2025.101900

Genes

GCH1
SPR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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