GTR Home > Conditions/Phenotypes > Parkinson disease 6, autosomal recessive early-onset

Disease characteristics

Excerpted from the GeneReview: PINK1 Type of Young-Onset Parkinson Disease
The PINK1 type of young-onset Parkinson disease is characterized by variable combinations of rigidity, bradykinesia, and rest tremor, often making it clinically indistinguishable from idiopathic Parkinson disease. Lower-limb dystonia may be a presenting sign. Onset usually occurs in the third or fourth decade. The disease is slowly progressive. Clinical signs vary; hyperreflexia may be present and abnormal behavior and/or psychiatric manifestations have been described. Dyskinesias as a result of treatment with levodopa frequently occur, as with all individuals with young-onset disease, regardless of the underlying genetic cause.

Available tests

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Associated genes

Clinical features

  • Urinary urgency
  • Hyperreflexia
  • Depression
  • Postural instability
  • Anxiety
  • Resting tremor
  • Dementia
  • Parkinsonism
  • Dystonia
  • Rigidity
  • Bradykinesia
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