MovDisordV3, Main, Exploration, bibRecord, 003575

Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia

Identifieur interne : 003575 ( Main/Exploration ); précédent : 003574; suivant : 003576

Atypical 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.

RBID : ISTEX:3B0F55892592DC19F8E6D856C6837D940466FDDD

Descripteurs français

Pascal (Inist)
- Dystonie, Italien, Phénotype, Pénétrance génique, Système nerveux pathologie, Torsion, Variabilité.
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:

https://api.istex.fr/document/3B0F55892592DC19F8E6D856C6837D940466FDDD/fulltext/pdf

DOI: 10.1002/mds.21056

Affiliations:

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Chromosome Deletion</term>
<term>DYT1</term>
<term>Dystonia</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>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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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term>
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<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>
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<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>
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<term>Italien</term>
<term>Phénotype</term>
<term>Pénétrance génique</term>
<term>Système nerveux pathologie</term>
<term>Torsion</term>
<term>Variabilité</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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<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>
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Movement Disorders (revue)

Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia

Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia

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Descripteurs français

English descriptors

Abstract

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	Movement Disorders (revue)
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