MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 002724

Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm

Identifieur interne : 002724 ( PascalFrancis/Checkpoint ); précédent : 002723; suivant : 002725

Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm

Auteurs : Puneet Opal [États-Unis] ; Ron Tintner [États-Unis] ; Joseph Jankovic [États-Unis] ; Joanne Leung [États-Unis] ; Xandra O. Breakefield [États-Unis] ; Jennifer Friedman [États-Unis] ; Laurie Ozelius [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:02-0311331

Descripteurs français

Pascal (Inist)
- Dystonie, Phénotype, Etude familiale, Physiopathologie, Homme, Enregistrement vidéo, Gène TOR1A.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Dystonia, Family study, Human, Pathophysiology, Phenotype, Video recording.

Abstract

When primary torsion dystonia is caused by a GAG deletion in the TORIA gene (DYTI dystonia), it typically presents with an early-onset dystonia involving distal limbs, subsequently spreading to a generalized dystonia. We describe a large family with an unusually broad variability in the clinical features of their dystonia both with regard to severity and age of onset. The proband of this family succumbed in his second decade to malignant generalized dystonia, whereas other family members carrying the same mutation are either asymptomatic or display dystonia that may be focal, segmental, multifocal, or generalized in distribution. One family member had onset of her dystonia at age 64 years, probably the oldest reported in genetically confirmed DYTI dystonia. We conclude that marked phenotypic heterogeneity characterizes some families with DYTI dystonia, suggesting a role for genetic, environmental, or other modifiers. These findings have implications for genetic testing and counseling.

Affiliations:

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<front><div type="abstract" xml:lang="en">When primary torsion dystonia is caused by a GAG deletion in the TORIA gene (DYTI dystonia), it typically presents with an early-onset dystonia involving distal limbs, subsequently spreading to a generalized dystonia. We describe a large family with an unusually broad variability in the clinical features of their dystonia both with regard to severity and age of onset. The proband of this family succumbed in his second decade to malignant generalized dystonia, whereas other family members carrying the same mutation are either asymptomatic or display dystonia that may be focal, segmental, multifocal, or generalized in distribution. One family member had onset of her dystonia at age 64 years, probably the oldest reported in genetically confirmed DYTI dystonia. We conclude that marked phenotypic heterogeneity characterizes some families with DYTI dystonia, suggesting a role for genetic, environmental, or other modifiers. These findings have implications for genetic testing and counseling.</div>
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<tree><country name="États-Unis"><region name="Texas"><name sortKey="Opal, Puneet" sort="Opal, Puneet" uniqKey="Opal P" first="Puneet" last="Opal">Puneet Opal</name>
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<name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name>
<name sortKey="Tintner, Ron" sort="Tintner, Ron" uniqKey="Tintner R" first="Ron" last="Tintner">Ron Tintner</name>
</country>
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</affiliations>
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   |texte=   Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
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	Movement Disorders (revue)
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Movement Disorders (revue)

Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm

Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm

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