MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001C22

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

Identifieur interne : 001C22 ( PascalFrancis/Checkpoint ); précédent : 001C21; suivant : 001C23

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.

RBID : Pascal:06-0538612

Descripteurs français

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

English descriptors

KwdEn :
- Dystonia, Gene penetrance, Italian, Nervous system diseases, Phenotype, Torsion, Variability.

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:

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Le document en format XML

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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.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia</s1>
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<fA14 i1="01"><s1>Department of Neurological and Visual Sciences, Neurological section, University of Verona</s1>
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<fA14 i1="05"><s1>Department of Experimental Medicine and Pathology, University La Sapienza</s1>
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	Movement Disorders (revue)
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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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