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Article

Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?

Brain : a journal of neurology - 1 Jan 2007

Fiorio Mirta, Gambarin Mattia, Valente Enza Maria, Liberini Paolo, Loi Mario, Cossu Giovanni, Moretto Giuseppe, Bhatia Kailash P, Defazio Giovanni, Aglioti Salvatore M, Fiaschi Antonio, Tinazzi Michele

Abstract excerpt

DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers. Investigating the factors regulating this reduced penetrance might add new insight into the mechanisms underlying the disease. The pathophysiology of dystonia has been related to basal ganglia dysfunctions that lead to the most prominent...

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PMID: 17105745
DOI: 10.1093/brain/awl283

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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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