[Primary torsion dystonia--clinical and molecular aspects].
Dystonias are a heterogeneous group of neurological disorders. In this paper we present clinical and molecular characteristics of inherited primary torsion dystonias. Clinical data and current concepts on the pathogenesis of dystonias with known molecular defect are presented in detail. Therapeutic options in patients with primary dystonias are also discussed.
Szczaluba
Krzysztof
K
Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland. kszczaluba@imid.med.pl
Mazurczak
Tadeusz
T
D000293:Adolescent; D017668:Age of Onset; D001921:Brain / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004422:Dystonia Musculorum Deformans / Q000145:classification* / Q000235:genetics* / Q000628:therapy; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics
D005819:Genetic Markers