PMID: 11921130Mar 29, 2002Paper

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

Movement Disorders : Official Journal of the Movement Disorder Society
Francesco BrancatiB Dallapiccola

Abstract

We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family.

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Citations

Jan 20, 2006·Journal of Neurology, Neurosurgery, and Psychiatry·G DefazioA Berardelli
Aug 21, 2007·Journal of Neurology, Neurosurgery, and Psychiatry·Richard WalshMichael Hutchinson
Oct 1, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Maria Fiorella ContarinoMarina A J Tijssen
Jun 15, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Alfonso FasanoAlberto Albanese
Oct 11, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Michael HutchinsonSeán O'Riordan
Jul 31, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·H A JinnahUNKNOWN Dystonia Coalition Investigators
Oct 19, 2004·Lancet Neurology·Giovanni DefazioAlfredo Berardelli
Apr 24, 2015·Journal of Neurology, Neurosurgery, and Psychiatry·Anna MolloyMichael Hutchinson
Mar 26, 2013·Parkinsonism & Related Disorders·I Rubio-AgustiK P Bhatia
Jan 23, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Giovanni DefazioBruno Dallapiccola
Feb 24, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Claire-Marie DhaenensBernard Sablonnière

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