Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
Identifieur interne : 001C22 ( PascalFrancis/Checkpoint ); précédent : 001C21; suivant : 001C23Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
Auteurs : Mattia Gambarin [Italie] ; Enza Maria Valente [Italie] ; Paolo Liberini [Italie] ; Giuseppe Barrano [Italie] ; Alberto Bonizzato [Italie] ; Alessandro Padovani [Italie] ; Giuseppe Moretto [Italie] ; Mirta Fiorio [Italie] ; Bruno Dallapiccola [Italie] ; Nicola Smania [Italie] ; Antonio Fiaschi [Italie] ; Michele Tinazzi [Italie]Source :
- Movement disorders [ 0885-3185 ] ; 2006.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
Pascal:06-0538612Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia</title>
<author><name sortKey="Gambarin, Mattia" sort="Gambarin, Mattia" uniqKey="Gambarin M" first="Mattia" last="Gambarin">Mattia Gambarin</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>IRCCS CSS, Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Liberini, Paolo" sort="Liberini, Paolo" uniqKey="Liberini P" first="Paolo" last="Liberini">Paolo Liberini</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Neurological Clinic</s1>
<s2>Brescia</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Neurological Clinic</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barrano, Giuseppe" sort="Barrano, Giuseppe" uniqKey="Barrano G" first="Giuseppe" last="Barrano">Giuseppe Barrano</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>IRCCS CSS, Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Experimental Medicine and Pathology, University La Sapienza</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bonizzato, Alberto" sort="Bonizzato, Alberto" uniqKey="Bonizzato A" first="Alberto" last="Bonizzato">Alberto Bonizzato</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Neurological Clinic</s1>
<s2>Brescia</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Neurological Clinic</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moretto, Giuseppe" sort="Moretto, Giuseppe" uniqKey="Moretto G" first="Giuseppe" last="Moretto">Giuseppe Moretto</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fiorio, Mirta" sort="Fiorio, Mirta" uniqKey="Fiorio M" first="Mirta" last="Fiorio">Mirta Fiorio</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>IRCCS CSS, Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Experimental Medicine and Pathology, University La Sapienza</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Smania, Nicola" sort="Smania, Nicola" uniqKey="Smania N" first="Nicola" last="Smania">Nicola Smania</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fiaschi, Antonio" sort="Fiaschi, Antonio" uniqKey="Fiaschi A" first="Antonio" last="Fiaschi">Antonio Fiaschi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tinazzi, Michele" sort="Tinazzi, Michele" uniqKey="Tinazzi M" first="Michele" last="Tinazzi">Michele Tinazzi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0538612</idno>
<date when="2006">2006</date>
<idno type="stanalyst">PASCAL 06-0538612 INIST</idno>
<idno type="RBID">Pascal:06-0538612</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001930</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001391</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001C22</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia</title>
<author><name sortKey="Gambarin, Mattia" sort="Gambarin, Mattia" uniqKey="Gambarin M" first="Mattia" last="Gambarin">Mattia Gambarin</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>IRCCS CSS, Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Liberini, Paolo" sort="Liberini, Paolo" uniqKey="Liberini P" first="Paolo" last="Liberini">Paolo Liberini</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Neurological Clinic</s1>
<s2>Brescia</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Neurological Clinic</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barrano, Giuseppe" sort="Barrano, Giuseppe" uniqKey="Barrano G" first="Giuseppe" last="Barrano">Giuseppe Barrano</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>IRCCS CSS, Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Experimental Medicine and Pathology, University La Sapienza</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bonizzato, Alberto" sort="Bonizzato, Alberto" uniqKey="Bonizzato A" first="Alberto" last="Bonizzato">Alberto Bonizzato</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Neurological Clinic</s1>
<s2>Brescia</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Neurological Clinic</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moretto, Giuseppe" sort="Moretto, Giuseppe" uniqKey="Moretto G" first="Giuseppe" last="Moretto">Giuseppe Moretto</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fiorio, Mirta" sort="Fiorio, Mirta" uniqKey="Fiorio M" first="Mirta" last="Fiorio">Mirta Fiorio</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>IRCCS CSS, Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Experimental Medicine and Pathology, University La Sapienza</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Smania, Nicola" sort="Smania, Nicola" uniqKey="Smania N" first="Nicola" last="Smania">Nicola Smania</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fiaschi, Antonio" sort="Fiaschi, Antonio" uniqKey="Fiaschi A" first="Antonio" last="Fiaschi">Antonio Fiaschi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tinazzi, Michele" sort="Tinazzi, Michele" uniqKey="Tinazzi M" first="Michele" last="Tinazzi">Michele Tinazzi</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Gene penetrance</term>
<term>Italian</term>
<term>Nervous system diseases</term>
<term>Phenotype</term>
<term>Torsion</term>
<term>Variability</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Dystonie</term>
<term>Phénotype</term>
<term>Variabilité</term>
<term>Italien</term>
<term>Torsion</term>
<term>Pénétrance génique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>21</s2>
</fA05>
<fA06><s2>10</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>GAMBARIN (Mattia)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>VALENTE (Enza Maria)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>LIBERINI (Paolo)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>BARRANO (Giuseppe)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>BONIZZATO (Alberto)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>PADOVANI (Alessandro)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>MORETTO (Giuseppe)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>FIORIO (Mirta)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>DALLAPICCOLA (Bruno)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>SMANIA (Nicola)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>FIASCHI (Antonio)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>TINAZZI (Michele)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Operative Unit of Neurology, Borgo Trento Hospital</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>IRCCS CSS, Mendel Institute</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Neurological Clinic</s1>
<s2>Brescia</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Experimental Medicine and Pathology, University La Sapienza</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>1782-1784</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000158877800420</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>13 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0538612</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Distonía</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Variabilité</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Variability</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Variabilidad</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Italien</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Italian</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Italiano</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Torsion</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Torsion</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Torsión</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Pénétrance génique</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Gene penetrance</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Penetrancia génica</s0>
<s5>13</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fN21><s1>353</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>Italie</li>
</country>
<region><li>Latium</li>
</region>
<settlement><li>Rome</li>
</settlement>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Gambarin, Mattia" sort="Gambarin, Mattia" uniqKey="Gambarin M" first="Mattia" last="Gambarin">Mattia Gambarin</name>
</noRegion>
<name sortKey="Barrano, Giuseppe" sort="Barrano, Giuseppe" uniqKey="Barrano G" first="Giuseppe" last="Barrano">Giuseppe Barrano</name>
<name sortKey="Barrano, Giuseppe" sort="Barrano, Giuseppe" uniqKey="Barrano G" first="Giuseppe" last="Barrano">Giuseppe Barrano</name>
<name sortKey="Bonizzato, Alberto" sort="Bonizzato, Alberto" uniqKey="Bonizzato A" first="Alberto" last="Bonizzato">Alberto Bonizzato</name>
<name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
<name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
<name sortKey="Fiaschi, Antonio" sort="Fiaschi, Antonio" uniqKey="Fiaschi A" first="Antonio" last="Fiaschi">Antonio Fiaschi</name>
<name sortKey="Fiorio, Mirta" sort="Fiorio, Mirta" uniqKey="Fiorio M" first="Mirta" last="Fiorio">Mirta Fiorio</name>
<name sortKey="Gambarin, Mattia" sort="Gambarin, Mattia" uniqKey="Gambarin M" first="Mattia" last="Gambarin">Mattia Gambarin</name>
<name sortKey="Liberini, Paolo" sort="Liberini, Paolo" uniqKey="Liberini P" first="Paolo" last="Liberini">Paolo Liberini</name>
<name sortKey="Moretto, Giuseppe" sort="Moretto, Giuseppe" uniqKey="Moretto G" first="Giuseppe" last="Moretto">Giuseppe Moretto</name>
<name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name>
<name sortKey="Smania, Nicola" sort="Smania, Nicola" uniqKey="Smania N" first="Nicola" last="Smania">Nicola Smania</name>
<name sortKey="Tinazzi, Michele" sort="Tinazzi, Michele" uniqKey="Tinazzi M" first="Michele" last="Tinazzi">Michele Tinazzi</name>
<name sortKey="Tinazzi, Michele" sort="Tinazzi, Michele" uniqKey="Tinazzi M" first="Michele" last="Tinazzi">Michele Tinazzi</name>
<name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001C22 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Checkpoint/biblio.hfd -nk 001C22 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= PascalFrancis |étape= Checkpoint |type= RBID |clé= Pascal:06-0538612 |texte= Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |