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...

Celý popis

Uloženo v:

Podrobná bibliografie
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
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Buďte první, kdo okomentuje tento záznam!