Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease.
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.
Bruno
Michiko K
MK
Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. brunom@ninds.nih.gov
Ravina
Bernard
B
Garraux
Gaetan
G
Hallett
Mark
M
Ptacek
Louis
L
Singleton
Amanda
A
Johnson
Janel
J
Singleton
Andrew
A
Hanson
Melissa
M
Considine
Elaine
E
Gwinn-Hardy
Katrina
K
D000368:Aged; D000978:Antiparkinson Agents / Q000627:therapeutic use; D002230:Carbidopa / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004338:Drug Combinations; D020821:Dystonic Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D015444:Exercise; D005260:Female; D005838:Genotype; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination / Q000187:drug effects; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012661:Semen; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D014743:Videotape Recording
D000978:Antiparkinson Agents; D004338:Drug Combinations; C009265:carbidopa, levodopa drug combination; D007980:Levodopa; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D002230:Carbidopa