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

✍ Scribed by Michiko K. Bruno; Bernard Ravina; Gaetan Garraux; Mark Hallett; Louis Ptacek; Amanda Singleton; Janel Johnson; Andrew Singleton; Melissa Hanson; Elaine Considine; Katrina Gwinn-Hardy

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
542 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

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.

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