New family with paroxysmal exercise‐induced dystonia and epilepsy

C Kamm, P Mayer, M Sharma, G Niemann… - Movement …, 2007 - Wiley Online Library
C Kamm, P Mayer, M Sharma, G Niemann, T Gasser
Movement disorders, 2007Wiley Online Library
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 …
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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