Neuropsychiatric and cognitive features in autosomal-recessive early Parkinsonism due to PINK1 mutations

Lilach Ephraty, Omer Porat, David Israeli, Oren S. Cohen, Olga Tunkel, Shinar Yael, Yasaku Hatano, Nobutaka Hattori, Sharon Hassin-Baer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Autosomal-recessive early-onset Parkinsonism (AREP) due to PINK1 mutations is characterized by an early-onset, slowly progressive disease, with a good response to levodopa. Psychiatric and cognitive disturbances associated with AREP have rarely been reported in the literature. We describe 2 brothers from a Jewish-Iraqi consanguineous family with a homozygous PINK1 nonsense mutation. Both patients presented with anxiety and dysphoria accompanied by a gait disturbance that developed subsequently into a clinical depression. During the course of the disease, both developed drug-induced behavioral disturbances of the hedonistic homeostatic dysregulation type and 1 had drug-induced psychosis. The first patient had been diagnosed with mild mental retardation and during the 22 years of disease had further deteriorated; the second developed frontal-type dementia at an early age, 20 years after onset. Their father had a psychiatric disorder but no Parkinsonism. This report expands the phenotypic profile of PINK1 -related disease, presenting unique psychiatric and cognitive features as part of the clinical picture.

Original languageEnglish
Pages (from-to)566-569
Number of pages4
JournalMovement Disorders
Issue number4
StatePublished - 15 Mar 2007


  • Cognitive
  • Hereditary
  • Neuropsychiatry
  • PINK1
  • Parkinsonism


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