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

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 fea...

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Vydáno v:	Movement disorders Ročník 17; číslo 2; s. 339 - 345
Hlavní autoři:	Opal, Puneet, Tintner, Ron, Jankovic, Joseph, Leung, Joanne, Breakefield, Xandra O., Friedman, Jennifer, Ozelius, Laurie
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	New York Wiley Subscription Services, Inc., A Wiley Company 01.03.2002 Wiley
Témata:	Adolescent Adult Aged Biological and medical sciences Carrier Proteins - genetics Child Chromosome Deletion distonic storm DNA Mutational Analysis dystonia Dystonic Disorders - diagnosis Dystonic Disorders - genetics DYT1 Female Follow-Up Studies Gene Expression Regulation - physiology Gene Products, gag - genetics Genetic Carrier Screening Genetic Predisposition to Disease - genetics Genetic Variation Humans Male Medical sciences Molecular Chaperones Nervous system (semeiology, syndromes) Nervous system as a whole Neurologic Examination Neurology Pedigree Phenotype phenotypic variability Risk Factors Trinucleotide Repeats Human Striated muscle disease Nervous system diseases Phenotype Pathophysiology Family study Dystonia Neurological disorder Video recording Extrapyramidal syndrome Involuntary movement
ISSN:	0885-3185, 1531-8257
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Shrnutí:	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.
Bibliografie:	istex:09DB4C852F80BC67DAED40195D4F8C5D31A4F3BA ark:/67375/WNG-SJ6BQMBF-L ArticleID:MDS10096 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0885-3185 1531-8257
DOI:	10.1002/mds.10096