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Article

A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.

Clinical neurology and neurosurgery - 1 Dec 2006

Furuya Hirokazu, Murai Hiroyuki, Takasugi Kazuo, Ohyagi Yasumasa, Urano Fumi, Kishi Taroh, Ichinose Hiroshi, Kira Jun-Ichi

Abstract excerpt

We report a case of a 46-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuations and dopa-responsive dystonia (HPD/DRD). She developed difficulty in walking at the age of 44 years due to bradykinesia as well as hand tremors, muscle rigidity, increased tendon reflexes and mild dystonia in the lower extremities, all of which responded remarkably to low doses of levodopa (150...

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Source

Identifiers

PMID: 16289769
DOI: 10.1016/j.clineuro.2005.10.004

Genes

GCH1
HPD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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