Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
Identifieur interne : 004424 ( Main/Exploration ); précédent : 004423; suivant : 004425Intrafamilial 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 ] ; 2002-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Carrier Proteins (genetics), Child, Chromosome Deletion, DNA Mutational Analysis, DYT1, Dystonia, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Family study, Female, Follow-Up Studies, Gene Expression Regulation (physiology), Gene Products, gag (genetics), Genetic Predisposition to Disease (genetics), Genetic Variation, Heterozygote Detection, Human, Humans, Male, Molecular Chaperones, Neurologic Examination, Pathophysiology, Pedigree, Phenotype, Risk Factors, Trinucleotide Repeats, Video recording, distonic storm, dystonia, phenotypic variability.
- MESH :
- chemical , genetics : Carrier Proteins, Gene Products, gag.
- diagnosis : Dystonic Disorders.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease.
- physiology : Gene Expression Regulation.
- Adolescent, Adult, Aged, Child, Chromosome Deletion, DNA Mutational Analysis, Female, Follow-Up Studies, Genetic Variation, Heterozygote Detection, Humans, Male, Molecular Chaperones, Neurologic Examination, Pedigree, Phenotype, Risk Factors, Trinucleotide Repeats.
Abstract
When primary torsion dystonia is caused by a GAG deletion in the TOR1A gene (DYT1 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 DYT1 dystonia. We conclude that marked phenotypic heterogeneity characterizes some families with DYT1 dystonia, suggesting a role for genetic, environmental, or other modifiers. These findings have implications for genetic testing and counseling. © 2002 Movement Disorder Society.
Url:
DOI: 10.1002/mds.10096
Affiliations:
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Breakefield</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-03">2002-03</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="339">339</biblScope><biblScope unit="page" to="345">345</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">09DB4C852F80BC67DAED40195D4F8C5D31A4F3BA</idno><idno type="DOI">10.1002/mds.10096</idno><idno type="ArticleID">MDS10096</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Carrier Proteins (genetics)</term><term>Child</term><term>Chromosome Deletion</term><term>DNA Mutational Analysis</term><term>DYT1</term><term>Dystonia</term><term>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (genetics)</term><term>Family study</term><term>Female</term><term>Follow-Up Studies</term><term>Gene Expression Regulation (physiology)</term><term>Gene Products, gag (genetics)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Variation</term><term>Heterozygote Detection</term><term>Human</term><term>Humans</term><term>Male</term><term>Molecular Chaperones</term><term>Neurologic Examination</term><term>Pathophysiology</term><term>Pedigree</term><term>Phenotype</term><term>Risk Factors</term><term>Trinucleotide Repeats</term><term>Video recording</term><term>distonic storm</term><term>dystonia</term><term>phenotypic variability</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term><term>Gene Products, gag</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Genetic Predisposition to Disease</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Gene Expression Regulation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Child</term><term>Chromosome Deletion</term><term>DNA Mutational Analysis</term><term>Female</term><term>Follow-Up Studies</term><term>Genetic Variation</term><term>Heterozygote Detection</term><term>Humans</term><term>Male</term><term>Molecular Chaperones</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term><term>Risk Factors</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Enregistrement vidéo</term><term>Etude familiale</term><term>Gène TOR1A</term><term>Homme</term><term>Physiopathologie</term><term>Phénotype</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">When primary torsion dystonia is caused by a GAG deletion in the TOR1A gene (DYT1 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 DYT1 dystonia. We conclude that marked phenotypic heterogeneity characterizes some families with DYT1 dystonia, suggesting a role for genetic, environmental, or other modifiers. These findings have implications for genetic testing and counseling. © 2002 Movement Disorder Society.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Massachusetts</li><li>Texas</li><li>État de New York</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><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></region><name sortKey="Breakefield, Xandra O" sort="Breakefield, Xandra O" uniqKey="Breakefield X" first="Xandra O." last="Breakefield">Xandra O. Breakefield</name><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><name sortKey="Leung, Joanne" sort="Leung, Joanne" uniqKey="Leung J" first="Joanne" last="Leung">Joanne Leung</name><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></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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