Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
Identifieur interne : 002F03 ( Istex/Curation ); précédent : 002F02; suivant : 002F04Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
Auteurs : Giovanni Defazio [Italie] ; Francesco Brancati [Italie] ; Enza Maria Valente [Italie] ; Viviana Caputo [Italie] ; Antonio Pizzuti [Italie] ; Davide Martino [Italie] ; Giovanni Abbruzzese [Italie] ; Paolo Livrea [Italie] ; Alfredo Berardelli [Italie] ; Bruno Dallapiccola [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-02.
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Abstract
Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). Although most cases are sporadic, an increased familial incidence of BSP has been reported. Precisely how blepharospasm is inherited remains unclear. We report on two Italian families with adult‐onset focal BSP inherited as an autosomal dominant trait with reduced penetrance. None of the affected family members had the 3‐bp (GAG) or the 18‐bp deletion in the DYT1 gene. In one family, linkage analysis allowed us to exclude segregation of the disease with the known PTD loci (DYT1, DYT6, DYT7, and DYT13). These findings suggest that primary familial adult‐onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene. © Movement Disorder Society
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DOI: 10.1002/mds.10314
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Mendel Institute, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>C.S.S. Mendel Institute, Rome</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental Medicine and Pathology, University La Sapienza, Rome</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2003-02">2003-02</date><biblScope unit="vol">18</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="207">207</biblScope><biblScope unit="page" to="212">212</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">214ADD757124A0E40937B3F885BAB9E10E75E370</idno><idno type="DOI">10.1002/mds.10314</idno><idno type="ArticleID">MDS10314</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>autosomal dominant inheritance</term><term>familial blepharospasm</term><term>linkage analysis</term><term>primary torsion dystonia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Blepharospasm (BSP) is a common form of primary torsion dystonia (PTD). Although most cases are sporadic, an increased familial incidence of BSP has been reported. Precisely how blepharospasm is inherited remains unclear. We report on two Italian families with adult‐onset focal BSP inherited as an autosomal dominant trait with reduced penetrance. None of the affected family members had the 3‐bp (GAG) or the 18‐bp deletion in the DYT1 gene. In one family, linkage analysis allowed us to exclude segregation of the disease with the known PTD loci (DYT1, DYT6, DYT7, and DYT13). These findings suggest that primary familial adult‐onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene. © Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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