Journal of Neural Transmission

, Volume 115, Issue 5, pp 715–719

PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson’s disease

Authors

    • Department of Aged Care and RehabilitationBankstown Hospital
    • Faculty of MedicineUniversity of New South Wales
  • Vincent Mok
    • Neurology Division, Department of Medicine and TherapeuticsPrince of Wales Hospital, The Chinese University of Hong Kong
  • Ping Wing Ng
    • Department of Medicine and GeriatricsUnited Christian Hospital
  • Jonas Yeung
    • Department of MedicineAHML Nethersole Hospital
  • John B. Kwok
    • Prince of Wales Medical Research Institute, University of New South Wales
  • Zhi Ming Fang
    • Cancer Care CentreSt George Hospital
  • Raymond Clarke
    • Cancer Care CentreSt George Hospital
  • Lawrence Wong
    • Neurology Division, Department of Medicine and TherapeuticsPrince of Wales Hospital, The Chinese University of Hong Kong
  • Peter R. Schofield
    • Prince of Wales Medical Research Institute, University of New South Wales
  • Nobutaka Hattori
    • Department of NeurologyJuntendo University, School of Medicine
Parkinson’s Disease and Allied Conditions - Original Article

DOI: 10.1007/s00702-007-0011-6

Cite this article as:
Chan, D.K.Y., Mok, V., Ng, P.W. et al. J Neural Transm (2008) 115: 715. doi:10.1007/s00702-007-0011-6

Abstract

Our aim was to characterise PARK2 mutations and clinical features in Hong Kong Chinese with early-onset Parkinson’s disease. Subjects were recruited from two major hospitals. Detailed data included demographics, age of onset, duration of disease, neurological manifestations, complications and disease severity. Genetic analysis for PARK2 mutations was performed. Thirty-four patients were recruited (mean age of onset = 39 years; mean duration of disease = 10 years). Seven patients reported a family history. The salient clinical manifestations were resting tremor (33/34), bradykinesia (33/34), rigidity (30/34), postural instability (20/34), good response to l-dopa (33/34), asymmetry at onset (31/34) and sleep benefit (12/34). Motor complications were reported in a significant number of patients, and depression was the most common nonmotor complication. Five patients were identified to have PARK2 mutations. Two sisters were compound heterozygotes for an insertion and a deletion, a novel and rare 1 bp insertion/nonsense mutation c1378_1379insG (exon 12) and the entire deletion of exon 7. Another patient was homozygous for the entire deletion of exon 6. Two carriers were identified, one with a T1321C (Cys441Arg) missense mutation in exon 12 and another with a snp within intron 4. Our study reviewed a higher prevalence of PARK2 mutations in Chinese than that previously documented. A compound heterozygous mutation within two sisters with significant differences in age of onset and phenotypic manifestations suggest that modifier affects may be present in this family.

Keywords

Early-onset Parkinson’s disease PARK2 Chinese Clinical features

Copyright information

© Springer-Verlag 2007