Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia
Identifieur interne : 003575 ( Main/Curation ); précédent : 003574; suivant : 003576Atypical 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 ] ; 2006-10.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Adult, Aged, Chromosome Deletion, DYT1, Dystonia, Dystonia (diagnosis), Dystonia (genetics), Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Female, Gene penetrance, Heterozygote Detection, Humans, Italian, Italy, Male, Middle Aged, Molecular Chaperones (genetics), Nervous system diseases, Neurologic Examination, Pedigree, Penetrance, Phenotype, Torsion, Trinucleotide Repeats (genetics), Variability, atypical penotypes, penetrance, phenotypic variability, primary torsion dystonia.
- MESH :
- chemical , genetics : Molecular Chaperones.
- geographic : Italy.
- diagnosis : Dystonia, Dystonia Musculorum Deformans.
- genetics : Dystonia, Dystonia Musculorum Deformans, Trinucleotide Repeats.
- Adult, Aged, Chromosome Deletion, Female, Heterozygote Detection, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Penetrance, Phenotype.
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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21056
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ISTEX:3B0F55892592DC19F8E6D856C6837D940466FDDDLe document en format XML
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<term>Dystonia (genetics)</term>
<term>Dystonia Musculorum Deformans (diagnosis)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Female</term>
<term>Gene penetrance</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Italian</term>
<term>Italy</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Chaperones (genetics)</term>
<term>Nervous system diseases</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Penetrance</term>
<term>Phenotype</term>
<term>Torsion</term>
<term>Trinucleotide Repeats (genetics)</term>
<term>Variability</term>
<term>atypical penotypes</term>
<term>penetrance</term>
<term>phenotypic variability</term>
<term>primary torsion dystonia</term>
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<term>Aged</term>
<term>Chromosome Deletion</term>
<term>Female</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
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<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. © 2006 Movement Disorder Society</div>
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</affiliation>
</author>
<author><name sortKey="Moretto, Giuseppe" sort="Moretto, Giuseppe" uniqKey="Moretto G" first="Giuseppe" last="Moretto">Giuseppe Moretto</name>
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<s3>ITA</s3>
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</affiliation>
</author>
<author><name sortKey="Fiorio, Mirta" sort="Fiorio, Mirta" uniqKey="Fiorio M" first="Mirta" last="Fiorio">Mirta Fiorio</name>
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<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>
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<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
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<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
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<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>
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<s3>ITA</s3>
<sZ>1 aut.</sZ>
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<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>
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<s3>ITA</s3>
<sZ>1 aut.</sZ>
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<country>Italie</country>
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</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>
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<idno type="wicri:Area/Main/Merge">004D17</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>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">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>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
</author>
<author><name sortKey="Liberini, Paolo" sort="Liberini, Paolo" uniqKey="Liberini P" first="Paolo" last="Liberini">Paolo Liberini</name>
</author>
<author><name sortKey="Barrano, Giuseppe" sort="Barrano, Giuseppe" uniqKey="Barrano G" first="Giuseppe" last="Barrano">Giuseppe Barrano</name>
</author>
<author><name sortKey="Bonizzato, Alberto" sort="Bonizzato, Alberto" uniqKey="Bonizzato A" first="Alberto" last="Bonizzato">Alberto Bonizzato</name>
</author>
<author><name sortKey="Padovani, Alessandro" sort="Padovani, Alessandro" uniqKey="Padovani A" first="Alessandro" last="Padovani">Alessandro Padovani</name>
</author>
<author><name sortKey="Moretto, Giuseppe" sort="Moretto, Giuseppe" uniqKey="Moretto G" first="Giuseppe" last="Moretto">Giuseppe Moretto</name>
</author>
<author><name sortKey="Fiorio, Mirta" sort="Fiorio, Mirta" uniqKey="Fiorio M" first="Mirta" last="Fiorio">Mirta Fiorio</name>
</author>
<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
</author>
<author><name sortKey="Smania, Nicola" sort="Smania, Nicola" uniqKey="Smania N" first="Nicola" last="Smania">Nicola Smania</name>
</author>
<author><name sortKey="Fiaschi, Antonio" sort="Fiaschi, Antonio" uniqKey="Fiaschi A" first="Antonio" last="Fiaschi">Antonio Fiaschi</name>
</author>
<author><name sortKey="Tinazzi, Michele" sort="Tinazzi, Michele" uniqKey="Tinazzi M" first="Michele" last="Tinazzi">Michele Tinazzi</name>
</author>
</titleStmt>
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<idno type="RBID">ISTEX:3B0F55892592DC19F8E6D856C6837D940466FDDD</idno>
<date when="2006" year="2006">2006</date>
<idno type="doi">10.1002/mds.21056</idno>
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<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:16874761</idno>
<idno type="wicri:Area/PubMed/Corpus">002B34</idno>
<idno type="wicri:Area/PubMed/Curation">002B34</idno>
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<idno type="wicri:Area/Ncbi/Checkpoint">001804</idno>
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<idno type="wicri:Area/Main/Merge">004890</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:regionArea>
<wicri:noRegion>University of Verona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Operative Unit of Neurology, Borgo Trento Hospital, Verona</wicri:regionArea>
<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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS CSS, Mendel Institute, Rome</wicri:regionArea>
<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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurological Clinic, Brescia</wicri:regionArea>
<wicri:noRegion>Brescia</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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS CSS, Mendel Institute, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Experimental Medicine and Pathology, University La Sapienza, Rome</wicri:regionArea>
<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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Operative Unit of Neurology, Borgo Trento Hospital, Verona</wicri:regionArea>
<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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Neurological Clinic, Brescia</wicri:regionArea>
<wicri:noRegion>Brescia</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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Operative Unit of Neurology, Borgo Trento Hospital, Verona</wicri:regionArea>
<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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:regionArea>
<wicri:noRegion>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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS CSS, Mendel Institute, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Experimental Medicine and Pathology, University La Sapienza, Rome</wicri:regionArea>
<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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:regionArea>
<wicri:noRegion>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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:regionArea>
<wicri:noRegion>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"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological and Visual Sciences, Neurological section, University of Verona</wicri:regionArea>
<wicri:noRegion>University of Verona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Operative Unit of Neurology, Borgo Trento Hospital, Verona</wicri:regionArea>
<wicri:noRegion>Verona</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</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>Hoboken</pubPlace>
<date type="published" when="2006-10">2006-10</date>
<biblScope unit="vol">21</biblScope>
<biblScope unit="issue">10</biblScope>
<biblScope unit="page" from="1782">1782</biblScope>
<biblScope unit="page" to="1784">1784</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">3B0F55892592DC19F8E6D856C6837D940466FDDD</idno>
<idno type="DOI">10.1002/mds.21056</idno>
<idno type="ArticleID">MDS21056</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Chromosome Deletion</term>
<term>DYT1</term>
<term>Dystonia (diagnosis)</term>
<term>Dystonia (genetics)</term>
<term>Dystonia Musculorum Deformans (diagnosis)</term>
<term>Dystonia Musculorum Deformans (genetics)</term>
<term>Female</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Italy</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Chaperones (genetics)</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Penetrance</term>
<term>Phenotype</term>
<term>Trinucleotide Repeats (genetics)</term>
<term>atypical penotypes</term>
<term>penetrance</term>
<term>phenotypic variability</term>
<term>primary torsion dystonia</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term>
<term>Dystonia Musculorum Deformans</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Dystonia Musculorum Deformans</term>
<term>Trinucleotide Repeats</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Chromosome Deletion</term>
<term>Female</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Penetrance</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</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. © 2006 Movement Disorder Society</div>
</front>
</TEI>
</ISTEX>
</double>
</record>
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