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Article

A new knock-in mouse model of l-DOPA-responsive dystonia.

Brain : a journal of neurology - 1 Oct 2015

Rose Samuel J, Yu Xin Y, Heinzer Ann K, Harrast Porter, Fan Xueliang, Raike Robert S, Thompson Valerie B, Pare Jean-Francois, Weinshenker David, Smith Yoland, Jinnah Hyder A, Hess Ellen J

Abstract excerpt

Abnormal dopamine neurotransmission is associated with many different genetic and acquired dystonic disorders. For instance, mutations in genes critical for the synthesis of dopamine, including GCH1 and TH cause l-DOPA-responsive dystonia. Despite evidence that implicates abnormal dopamine neurotransmission in dystonia, the precise nature of the pre- and postsynaptic defects that result in dystonia are not known....

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Source

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Identifiers

PMID: 26220941
DOI: 10.1093/brain/awv212
PMCID: PMC4627353

Genes

GCH1

Variants

Provenance

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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