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

Francesco Brancati; Giovanni Defazio; Viviana Caputo; Enza Maria Valente; Antonio Pizzuti; Paolo Livrea; Alfredo Berardelli; Bruno Dallapiccola

doi:10.1002/mds.10077

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

Francesco Brancati, Giovanni Defazio, Viviana Caputo, Enza Maria Valente, Antonio Pizzuti, Paolo Livrea, Alfredo Berardelli, Bruno Dallapiccola

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	392-397
Number of pages	6
Journal	Movement Disorders
Volume	17
Issue number	2
DOIs	https://doi.org/10.1002/mds.10077
Publication status	Published - Mar 2002

Keywords

Focal dystonia
Genetic heterogeneity
Linkage analysis
Primary torsion dystonia

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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10.1002/mds.10077

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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.",

keywords = "Focal dystonia, Genetic heterogeneity, Linkage analysis, Primary torsion dystonia",

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AU - Brancati, Francesco

AU - Defazio, Giovanni

AU - Caputo, Viviana

AU - Valente, Enza Maria

AU - Pizzuti, Antonio

AU - Livrea, Paolo

AU - Berardelli, Alfredo

AU - Dallapiccola, Bruno

PY - 2002/3

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N2 - 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.

AB - 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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KW - Genetic heterogeneity

KW - Linkage analysis

KW - Primary torsion dystonia

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

Abstract

Keywords

ASJC Scopus subject areas

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