New family with paroxysmal exercise‐induced dystonia and epilepsy
Identifieur interne : 001826 ( Istex/Checkpoint ); précédent : 001825; suivant : 001827New family with paroxysmal exercise‐induced dystonia and epilepsy
Auteurs : Christoph Kamm [Allemagne] ; Petra Mayer [Allemagne] ; Manu Sharma [Allemagne] ; Gerhard Niemann [Allemagne] ; Thomas Gasser [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-04-30.
English descriptors
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. © 2007 Movement Disorder Society
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DOI: 10.1002/mds.21350
Affiliations:
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<front><div type="abstract" xml:lang="en">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. © 2007 Movement Disorder Society</div>
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