title: New family with paroxysmal exercise-induced dystonia and epilepsy.
abstract: To date, there are few reports of paroxysmal exercise-induced dystonia associated with familial epilepsy. We describe a family with 4 affected members spanning 3 generations, suggestive of autosomal-dominant inheritance, who exhibited typical exercise-induced dystonia, different types of epilepsy (absence and primary generalized seizures), developmental delay, and migraine in variable combinations. Linkage of the disease to loci on chromosome 2 (paroxysmal nonkinesigenic dyskinesia) and chromosome 16 (paroxysmal kinesigenic choreoathetosis, infantile convulsions with choreoathetosis) was excluded, suggesting an as yet unidentified underlying genetic basis.
authors.affiliation: Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Kamm
authors.forename: Petra
authors.initials: P
authors.lastname: Mayer
authors.forename: Manu
authors.initials: M
authors.lastname: Sharma
authors.forename: Gerhard
authors.initials: G
authors.lastname: Niemann
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D015444:Exercise; D017079:Exercise Tolerance; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology / Q000235:genetics*; D010375:Pedigree