title: [A 62-year-old woman with early-onset Parkinson's disease associated with the PINKi gene deletion].
abstract: We report the first case of early-onset Parkinson's disease (EOP) with the PTEN-induced kinase 1 (PINK1) gene deletion in 62 years old Japanese female. The symptoms were started with unstable gait at the age 38. Parkinsonian symptoms became apparent in 45 years old. L-Dopa was markedly effective on her parkinsonian symptoms. However, equinovarus foot induced by L-Dopa intake appeared three months prior to the admission. On admission, she presented with mild cognitive impairment, severe depression, marked retropulsion, resting tremor in the left upper limb and mild hyperreflexia in the four limbs. Rigidity was not present. Mutational analysis revealed homozygous deletion from exon 6 to 8 in the PINK1 gene. An ethnic diversity in PINK1 mutation is suggested.
authors.affiliation: Department of Neurology, Baba Memorial Hospital.
authors.forename: Masahiko
authors.initials: M
authors.lastname: Atsumi
authors.forename: Yuanzhe
authors.initials: Y
authors.lastname: Li
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tomiyama
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sato
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
mesh_terms: D000367:Age Factors; D000978:Antiparkinson Agents / Q000627:therapeutic use; D003704:Dementia / Q000209:etiology; D004421:Dystonia / Q000209:etiology*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000188:drug therapy / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase