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Parkin disease: a phenotypic study of a large case series

Khan, NL; Graham, E; Critchley, P; Schrag, AE; Wood, NW; Lees, AJ; Bhatia, KP; (2003) Parkin disease: a phenotypic study of a large case series. BRAIN , 126 1279 - 1292. 10.1093/brain/awg142.

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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.

Type: Article
Title: Parkin disease: a phenotypic study of a large case series
DOI: 10.1093/brain/awg142
Keywords: parkin, PARK2, phenotype, mutation, RECESSIVE JUVENILE PARKINSONISM, EARLY-ONSET PARKINSONISM, NIGROSTRIATAL DOPAMINERGIC SYSTEM, PSEUDO-DOMINANT INHERITANCE, UBIQUITIN-PROTEIN LIGASE, GTP CYCLOHYDROLASE-I, GENE-MUTATIONS, RESPONSIVE DYSTONIA, HOMOZYGOUS DELETION, FAMILY
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/141586
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