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Autosomal recessive early-onset Parkinson disease 6

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Description

PINK1 type of young-onset Parkinson disease is characterized by early onset (mean age 33 years) of tremor, bradykinesia, and rigidity that are often indistinguishable from other causes of Parkinson disease. Lower-limb dystonia may be a presenting sign. Postural instability, hyperreflexia, abnormal behavior, and psychiatric manifestations have been described. The disease is usually slowly progressive. Individuals have a marked and sustained response to oral administration of levodopa (L-dopa), frequently associated with L-dopa-induced fluctuations and dyskinesias.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

128

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Genes

External Links

  • OMIM

    605909

  • Orphanet
  • HPO
  • Medgen

    C1853833

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