[en] 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, ssequencing 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.
Disciplines :
Neurology Genetics & genetic processes
Author, co-author :
Bruno, Michiko K; Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Ravina, Bernard; Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Garraux, Gaëtan ; Université de Liège - ULiège & Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Hallett, Mark; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Ptacek, Louis; Howard Hughes Medical Institute, Department of Neurology, University of California San Francisco, San Francisco California, USA
Singleton, Amanda; Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Johnson, Janel; Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda Maryland, USA
Singleton, Andrew; Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda Maryland, USA
Hanson, Melissa; Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda Maryland, USA
Considine, Elaine; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Gwinn-Hardy, Katrina; Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Language :
English
Title :
Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease
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