Parkinson’s Disease

Description

  • Parkinson’s disease is a progressive, degenerative movement disorder characterized by tremors, imbalance and slowed movements.
  • The causes of Parkinson’s disease are mostly unknown, and many factors contribute to the development of Parkinson’s including environmental exposures and genetics.
  • Genetic testing for PD is recommended in anyone diagnosed with early-onset PD (age < 50 years), or anyone with PD who has a first degree family member with PD, other movement disorder, dementia or Gaucher disease.

How often is a hereditary cause identified?

  • The diagnostic yield of genetic testing in PD is 5-26% overall (9-16% in early-onset PD and 10% in familial PD).

How does identifying a hereditary cause change a patient’s medical management?

  • Genetic testing may inform an individual’s eligibility for research studies.
  • For example, there are clinical trials in GBA carriers with PD including enzyme inhibition, gene therapy, and small molecular chaperone therapy.

How are these conditions inherited?

  • Known monogenic causes of Parkinson’s Disease have varying inheritance pattern depending on the gene. Some are autosomal dominant, and others are autosomal recessive. Some gene variants are considered “risk factors”.

Where can I learn more about hereditary Parkinson’s disease?

References

  • Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon SC, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts. J Neurol. 2023 Oct 27. doi: 10.1007/s00415-023-12058-6. Epub ahead of print. PMID: 37891417.