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Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.

Parkinsonism & related disorders - 1 May 2020

Wassenberg Tessa, Schouten Meyke I, Helmich Rick C, Willemsen Michèl A A P, Kamsteeg Erik-Jan, van de Warrenburg Bart P C

Abstract excerpt

BACKGROUND: Autosomal dominant GCH1 mutations are known to cause dopa-responsive dystonia (DRD). In this case series, we confirm a variant phenotype, characterized by predominant spastic paraplegia at disease onset with development of dystonia and/or parkinsonism only decades later. METHODS: Clinical trajectories of four patients from three families with pathogenic variants in GCH1 are described, illustrated by...

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Identifiers

PMID: 32278297
DOI: 10.1016/j.parkreldis.2020.03.019

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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