Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
Identifieur interne : 000727 ( Ncbi/Curation ); précédent : 000726; suivant : 000728Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
Auteurs : Puneet Opal [États-Unis] ; Ron Tintner ; Joseph Jankovic [États-Unis] ; Joanne Leung ; Xandra O. Breakefield ; Jennifer Friedman ; Laurie OzeliusSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Carrier Proteins (genetics), Child, Chromosome Deletion, DNA Mutational Analysis, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Female, Follow-Up Studies, Gene Expression Regulation (physiology), Gene Products, gag (genetics), Genetic Predisposition to Disease (genetics), Genetic Variation, Heterozygote Detection, Humans, Male, Molecular Chaperones, Neurologic Examination, Pedigree, Phenotype, Risk Factors, Trinucleotide Repeats.
- 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.
PubMed: 11921121
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Breakefield</name></author><author><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name></author><author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></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>Dystonic Disorders (diagnosis)</term><term>Dystonic Disorders (genetics)</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>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="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></textClass></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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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