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- Title
Parkin disease: a phenotypic study of a large case series.
- Authors
N.L. Khan; E. Graham; P. Critchley; A.E. Schrag; N.W. Wood; A.J. Lees; K.P. Bhatia; N. Quinn
- Abstract
Mutations in the parkin gene, PARK2, are a common cause of parkinsonism in familial as well as isolated cases with an age of onset <40 years and should be considered in the diagnostic work up of young-onset parkinsonism. We report a detailed clinical evaluation of a personal series of 24 patients with mutations in the parkin gene. The clinical presentation of most cases was broadly comparable to that of previous descriptions of autosomal recessive early-onset or juvenile parkinsonism and young-onset Parkinson's disease and also had similarities with phenotypes of dopa-responsive dystonia. However, our only case with consanguineous parents had an age of onset of 54 years. We report three new phenotypes at presentation: cervical dystonia; autonomic dysfunction and peripheral neuropathy; and pure exercise-induced dystonia. We emphasize a number of clinical features that can be seen in parkin disease: focal dystonia; early instability; freezing; festination or retropulsion; concurrent autonomic failure; dramatic response to anticholinergics; early or atypical l-dopa-induced dyskinesias; exquisite sensitivity to small doses of l-dopa; and recurrent psychosis, even taking l-dopa alone. We also report behavioural disorder prior to the onset of parkinsonism. Some relatives carrying a single parkin mutation without extrapyramidal symptoms or signs also had psychiatric symptoms that might be related to their carrier status.
- Publication
Brain: A Journal of Neurology, 2003, Vol 126, Issue 6, p1279
- ISSN
0006-8950
- Publication type
Academic Journal
- DOI
10.1093/brain/awg142