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Mov Disord. 2004 Feb;19(2):228-30.

Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease.

Author information

  • 1Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. brunom@ninds.nih.gov

Abstract

Paroxysmal exercise-induced dystonia can occur with Parkinson's disease (PD), and in rare cases, this can also be the presenting symptom. We report on 2 second cousins (no known consanguinity) who presented with paroxysmal exercise-induced dystonia who later developed clinical features of PD. Although autosomal recessive inheritance was suggested, and the dystonic features further suggest parkin as a possible cause, sequencing for parkin mutations was negative and this family may represent a genetic variant of PD. Further genotype-phenotype studies in this and similar families may give clues to pre-symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future.

PMID:
14978684
[PubMed - indexed for MEDLINE]
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