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New family with paroxysmal exercise-induced dystonia and epilepsy

Authors

  • Christoph Kamm MD,

    1. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
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  • Petra Mayer,

    1. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
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  • Manu Sharma MSc,

    1. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
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  • Gerhard Niemann MD,

    1. Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, University of Tubingen, Tubingen, Germany
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  • Thomas Gasser MD

    Corresponding author
    1. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    • Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Hoppe-Seyler-Str. 3, University of Tubingen, 72086 Tuebingen, Germany
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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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