MovDisordV3, PascalFrancis, Corpus, bibRecord, 002786

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

Identifieur interne : 002786 ( PascalFrancis/Corpus ); précédent : 002785; suivant : 002787

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

Auteurs : Puneet Opal ; Ron Tintner ; Joseph Jankovic ; Joanne Leung ; Xandra O. Breakefield ; Jennifer Friedman ; Laurie Ozelius

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:02-0311331

Descripteurs français

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

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`02`	`1`		`@1 TINTNER (Ron)`
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A11	`04`	`1`		`@1 LEUNG (Joanne)`
A11	`05`	`1`		`@1 BREAKEFIELD (Xandra O.)`
A11	`06`	`1`		`@1 FRIEDMAN (Jennifer)`
A11	`07`	`1`		`@1 OZELIUS (Laurie)`
A14	`01`			`@1 Department of Neurology, Baylor College of Medicine @2 Houston, Texas @3 USA @Z 1 aut. @Z 2 aut. @Z 3 aut.`
A14	`02`			`@1 Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School @2 Boston, Massachusetts @3 USA @Z 4 aut. @Z 5 aut. @Z 6 aut.`
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C07	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 38`
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C07	`03`	`X`	`FRE`	`@0 Trouble neurologique @5 39`
C07	`03`	`X`	`ENG`	`@0 Neurological disorder @5 39`
C07	`03`	`X`	`SPA`	`@0 Trastorno neurológico @5 39`
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C07	`05`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 41`
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Format Inist (serveur)

NO :	PASCAL 02-0311331 INIST
ET :	Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
AU :	OPAL (Puneet); TINTNER (Ron); JANKOVIC (Joseph); LEUNG (Joanne); BREAKEFIELD (Xandra O.); FRIEDMAN (Jennifer); OZELIUS (Laurie)
AF :	Department of Neurology, Baylor College of Medicine/Houston, Texas/Etats-Unis (1 aut., 2 aut., 3 aut.); Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School/Boston, Massachusetts/Etats-Unis (4 aut., 5 aut., 6 aut.); Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (7 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 2; Pp. 339-345; Bibl. 26 ref.
LA :	Anglais
EA :	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.
CC :	002B17A01
FD :	Dystonie; Phénotype; Etude familiale; Physiopathologie; Homme; Enregistrement vidéo; Gène TOR1A
FG :	Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome
ED :	Dystonia; Phenotype; Family study; Pathophysiology; Human; Video recording
EG :	Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome
SD :	Distonía; Fenotipo; Estudio familiar; Fisiopatología; Hombre; Registro vídeo
LO :	INIST-20953.354000100907450160
ID :	02-0311331

Links to Exploration step

Pascal:02-0311331

Le document en format XML

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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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<fC03 i1="04" i2="X" l="SPA"><s0>Fisiopatología</s0>
<s5>17</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0>
<s5>20</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Human</s0>
<s5>20</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Hombre</s0>
<s5>20</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Enregistrement vidéo</s0>
<s5>23</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Video recording</s0>
<s5>23</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Registro vídeo</s0>
<s5>23</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Gène TOR1A</s0>
<s4>INC</s4>
<s5>86</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>41</s5>
</fC07>
<fN21><s1>175</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 02-0311331 INIST</NO>
<ET>Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm</ET>
<AU>OPAL (Puneet); TINTNER (Ron); JANKOVIC (Joseph); LEUNG (Joanne); BREAKEFIELD (Xandra O.); FRIEDMAN (Jennifer); OZELIUS (Laurie)</AU>
<AF>Department of Neurology, Baylor College of Medicine/Houston, Texas/Etats-Unis (1 aut., 2 aut., 3 aut.); Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School/Boston, Massachusetts/Etats-Unis (4 aut., 5 aut., 6 aut.); Molecular Genetics, Albert Einstein College of Medicine/Bronx, New York/Etats-Unis (7 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 2; Pp. 339-345; Bibl. 26 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17A01</CC>
<FD>Dystonie; Phénotype; Etude familiale; Physiopathologie; Homme; Enregistrement vidéo; Gène TOR1A</FD>
<FG>Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome</FG>
<ED>Dystonia; Phenotype; Family study; Pathophysiology; Human; Video recording</ED>
<EG>Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome</EG>
<SD>Distonía; Fenotipo; Estudio familiar; Fisiopatología; Hombre; Registro vídeo</SD>
<LO>INIST-20953.354000100907450160</LO>
<ID>02-0311331</ID>
</server>
</inist>
</record>

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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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