Parkinson’s Disease and Allied Conditions - Original Article

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

  • Daniel Kam Yin ChanAffiliated withDepartment of Aged Care and Rehabilitation, Bankstown HospitalFaculty of Medicine, University of New South Wales Email author 
  • , Vincent MokAffiliated withNeurology Division, Department of Medicine and Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong
  • , Ping Wing NgAffiliated withDepartment of Medicine and Geriatrics, United Christian Hospital
  • , Jonas YeungAffiliated withDepartment of Medicine, AHML Nethersole Hospital
  • , John B. KwokAffiliated withPrince of Wales Medical Research Institute, University of New South Wales
  • , Zhi Ming FangAffiliated withCancer Care Centre, St George Hospital
  • , Raymond ClarkeAffiliated withCancer Care Centre, St George Hospital
  • , Lawrence WongAffiliated withNeurology Division, Department of Medicine and Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong
  • , Peter R. SchofieldAffiliated withPrince of Wales Medical Research Institute, University of New South Wales
    • , Nobutaka HattoriAffiliated withDepartment of Neurology, Juntendo University, School of Medicine

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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