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Article

Non-motor phenotype of dopa-responsive dystonia and quality of life assessment.

Parkinsonism & related disorders - 1 Apr 2014

Brüggemann Norbert, Stiller Sophie, Tadic Vera, Kasten Meike, Münchau Alexander, Graf Julia, Klein Christine, Hagenah Johann

Abstract excerpt

BACKGROUND: Dopa-responsive dystonia (DRD) is a young-onset neurometabolic disorder often presenting with a combination of parkinsonism and dystonia. The pathophysiology includes an impairment of dopaminergic and serotonergic neurotransmission. Uncontrolled reports suggest an increased frequency of neuropsychiatric abnormalities and sleep impairment. METHODS: In 23 GCH1 mutation-positive DRD patients and 26...

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Source

Identifiers

PMID: 24444533
DOI: 10.1016/j.parkreldis.2013.12.014

Genes

GCH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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