Article (Scientific journals)
Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease
Bruno, Michiko K; Ravina, Bernard; Garraux, Gaëtan et al.
2004In Movement Disorders, 19 (2), p. 228-230
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Keywords :
Parkinson's disease; familial; exercise-induced dystonia; parkin
Abstract :
[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
Publication date :
2004
Journal title :
Movement Disorders
ISSN :
0885-3185
eISSN :
1531-8257
Publisher :
John Wiley & Sons
Volume :
19
Issue :
2
Pages :
228-230
Peer reviewed :
Peer Reviewed verified by ORBi
Funders :
NINDS - National Institute of Neurological Disorders and Stroke [US-MD]
Available on ORBi :
since 16 April 2009

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