Brain Advance Access originally published online on April 8, 2003
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Brain, Vol. 126, No. 6, 1279-1292,
June 2003
© 2003 Guarantors of Brain
doi: 10.1093/brain/awg142
Parkin disease: a phenotypic study of a large case series
1 Department of Molecular Pathogenesis and
2 Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology,
3 Reta Lila Weston Institute of Neurological Studies, Royal Free Hospital and University College Medical School, London, and
4 Department of Neurology, Leicester Royal Infirmary, Leicester, UK
This paper is dedicated to the memory of Elizabeth Graham, who died in October 2001.
Correspondence to: Professor Niall Quinn, Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London WC1N 3BG, UK E-mail: n.quinn{at}ion.ucl.ac.uk
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.
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