Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
Identifieur interne : 001804 ( Ncbi/Checkpoint ); précédent : 001803; suivant : 001805Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
Auteurs : Mattia Gambarin [Italie] ; Enza Maria Valente ; Paolo Liberini ; Giuseppe Barrano ; Alberto Bonizzato ; Alessandro Padovani ; Giuseppe Moretto ; Mirta Fiorio ; Bruno Dallapiccola ; Nicola Smania ; Antonio Fiaschi ; Michele TinazziSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Adult, Aged, Chromosome Deletion, Dystonia (diagnosis), Dystonia (genetics), Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Female, Heterozygote Detection, Humans, Italy, Male, Middle Aged, Molecular Chaperones (genetics), Neurologic Examination, Pedigree, Penetrance, Phenotype, Trinucleotide Repeats (genetics).
- 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.
DOI: 10.1002/mds.21056
PubMed: 16874761
Affiliations:
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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><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.21056</idno><idno type="RBID">pubmed:16874761</idno><idno type="pmid">16874761</idno><idno type="wicri:Area/PubMed/Corpus">002B34</idno><idno type="wicri:Area/PubMed/Curation">002B34</idno><idno type="wicri:Area/PubMed/Checkpoint">002E64</idno><idno type="wicri:Area/Ncbi/Merge">001804</idno><idno type="wicri:Area/Ncbi/Curation">001804</idno><idno type="wicri:Area/Ncbi/Checkpoint">001804</idno></publicationStmt><sourceDesc><biblStruct><analytic><title 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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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Chromosome Deletion</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></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></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><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><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="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="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="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></noCountry><country name="Italie"><noRegion><name sortKey="Gambarin, Mattia" sort="Gambarin, Mattia" uniqKey="Gambarin M" first="Mattia" last="Gambarin">Mattia Gambarin</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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