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New family with paroxysmal exercise‐induced dystonia and epilepsy
Author(s) -
Kamm Christoph,
Mayer Petra,
Sharma Manu,
Niemann Gerhard,
Gasser Thomas
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21350
Subject(s) - paroxysmal dyskinesia , choreoathetosis , dystonia , epilepsy , dyskinesia , medicine , migraine , pediatrics , movement disorders , neurological disorder , disease , neuroscience , psychology , central nervous system disease , psychiatry , parkinson's disease
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