دورية أكاديمية
Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease
| العنوان: | Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease |
|---|---|
| المؤلفون: | Bruno, Michiko K, Ravina, Bernard, Garraux, Gaëtan, Hallett, Mark, Ptacek, Louis, Singleton, Amanda, Johnson, Janel, Singleton, Andrew, Hanson, Melissa, Considine, Elaine, Gwinn-Hardy, Katrina |
| المصدر: | Movement Disorders, 19 (2), 228-230 (2004) |
| بيانات النشر: | John Wiley & Sons, 2004. |
| سنة النشر: | 2004 |
| مصطلحات موضوعية: | Parkinson's disease, familial, exercise-induced dystonia, parkin, Life sciences, Genetics & genetic processes, Human health sciences, Neurology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Neurologie |
| الوصف: | 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. |
| نوع الوثيقة: | journal article http://purl.org/coar/resource_type/c_6501 article |
| اللغة: | English |
| Relation: | http://www3.interscience.wiley.com/journal/106557950/abstract; urn:issn:0885-3185; urn:issn:1531-8257 |
| DOI: | 10.1002/mds.10626 |
| URL الوصول: | https://orbi.uliege.be/handle/2268/11337 |
| حقوق: | restricted access http://purl.org/coar/access_right/c_16ec info:eu-repo/semantics/restrictedAccess |
| رقم الأكسشن: | edsorb.11337 |
| قاعدة البيانات: | ORBi |
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