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Article

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.

Neurologia i neurochirurgia polska - 1 Jan 2014

Jurek Marta, Hoffman-Zacharska Dorota, Koziorowski Dariusz, Mądry Jacek, Friedman Andrzej, Bal Jerzy

Abstract excerpt

Mutations localized in THAP1 gene, locus 18p11.21 have been reported as causative of primary dystonia type 6 (DYT6). Disease which is characterized mainly by focal dystonia, frequently involving the craniocervical region, however associated also with early-onset generalized dystonia and spasmodic dysphonia. Here we report a novel mutation in the THAP1 gene identified in a Polish family with DYT6 phenotype - the...

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Source

Identifiers

PMID: 25168324
DOI: 10.1016/j.pjnns.2014.07.003

Genes

THAP1

Variants

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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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