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Article

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.

Movement disorders : official journal of the Movement Disorder Society - 30 Jul 2010

Salvatore Elena, Di Maio Luigi, Filla Alessandro, Ferrara Alfonso M, Rinaldi Carlo, Saccà Francesco, Peluso Silvio, Macchia Paolo E, Pappatà Sabina, De Michele Giuseppe

Abstract excerpt

Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset...

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PMID: 20544814
DOI: 10.1002/mds.23065

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

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