Parkin disease: a phenotypic study of a large case series.

  title={Parkin disease: a phenotypic study of a large case series.},
  author={Naheed L Khan and Elizabeth Graham and Peter Critchley and A Schrag and Nicholas Wood and A. J. Lees and Kailash P Bhatia and Niall Quinn},
  journal={Brain : a journal of neurology},
  volume={126 Pt 6},
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… CONTINUE READING