The genetically dystonic rat


Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, or abnormal postures. It is one of the more common movement disorders seen in neurological specialty clinics. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Primary dystonia may be generalized, segmental, or focal. Primary generalized dystonias usually begin in childhood, whereas focal dystonias are normally present during adult life. Mutant genes are believed to play a major role in many cases of primary dystonia. The genetically dystonic rat, an autosomal recessive animal model of primary generalized dystonia, develops a dystonic motor syndrome by postnatal day 12. The dystonic rat is a spontaneous mutant discovered in the Sprague-Dawley strain. The mutation is fully penetrant, and there is negligible variability to its expressivity. Discovering additional genes associated with dystonia in either humans or animal models and characterizing the functions of their encoded proteins greatly improves the understanding of this movement disorder. Thus, lessons learned from the study of a recessive dystonia in an animal model could have broad implications for sporadic human disease. © 2005 Elsevier Inc. All rights reserved.

Publication Title

Movement Disorders