Phenotypic variability of the DYT1 mutation in German dystonia patients

• Published in: Acta neurologica Scandinavica Vol. 99; no. 4; pp. 248 - 251
• Main Authors: Leube, B., Kessler, K. R., Ferbert, A., Ebke, M., Schwendemann, G., Erbguth, F., Benecke, R., Auburger, G.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.1999; Blackwell
• Subjects: Adolescent; Biological and medical sciences; Carrier Proteins - genetics; Child; Diseases of striated muscles. Neuromuscular diseases; DNA Mutational Analysis; dystonia; Dystonia - genetics; Dystonia Musculorum Deformans - genetics; DYT1; Female; Genetic Variation; Germany; Humans; Male; Medical sciences; Molecular Chaperones; Neurology; Phenotype; Point Mutation - genetics; Germany; Human; Nervous system diseases; Genetic determinism; Genetic disease; Involuntary movement; Striated muscle disease; Phenotype; Primary; Phenotype variation; Diagnosis; Dystonia; Mutation; Neurological disorder; Subtype; Extrapyramidal syndrome
• ISSN: 0001-6314; 1600-0404
• DOI: 10.1111/j.1600-0404.1999.tb07356.x

Primary dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained involuntary muscle contractions causing repetitive movements and/or abnormal postures. Recently, the gene locus (DYT1) and mutation responsible for a substantial number of cases suffering from early‐onset primary dystonia was described. Here we report 2 Germar families and 1 sporadic patient with early‐onset dystonia due to the DYT1 mutation in order to illustrate the variability of clinical manifestation within this molecularly defined entity. We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia.