General PD Overview

• GeneReviews: Overview of Parkinson’s Disease

  Cook Shukla L, Schulze J, Farlow J, et al. Parkinson Disease Overview. 2004 May 25 [Updated 2019 Jul 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.

  Informative review of the genetics of Parkinson’s disease including an evaluation strategy to identify the genetic cause of Parkinson’s disease in a patient and information for family members including genetic counseling.

• Parkinson’s Disease

  Bloem, B. R., Okun, M. S. & Klein, C. Parkinson’s disease. Lancet 397, 2284–2303 (2021)

  A review of the complexities and challenges of PD including clinical features, risk factors, pathology, genetics, pathogenesis, diagnosis, and treatment.

• NIH Genetics Home Reference: Parkinson’s Disease

  Kalia LV and Lang AE. Lancet 2015; 386(9996):896-912 DOI: 10.1016/S0140-6736(14)61393-3

  Overview of the clinical characteristics of PD along with the frequency, causes, and inheritance of PD.

PD Genetics

• Genetic Forms of Parkinson’s Disease

  Kim C and Alcalay R. Genetic Forms of Parkinson’s Disease. Seminars in Neurology 2017; 37:135-146 DOI: 10.1055/s-0037-1601567

  A review of the key clinical features of the monogenic forms of PD including LRRK2, GBA1, SNCA, VPS35, PRKN, PINK1, and DJ1. Information on phenotype, clinical course, and treatment response is included.

• Tools for Risk Communication

  Cook, L., Schulze, J., Uhlmann, W.R. et al. Tools for communicating risk for Parkinson’s disease. npj Parkinsons Dis. 8, 164 (2022). https://doi.org/10.1038/s41531-022-00432-6

  Information on PD genes, variants, inheritance patterns, and chances of disease to be used for risk counseling.

• The Genetic Architecture of Parkinson’s Disease

  Blauwendraat C, Nalls MA, and Singleton AB. The Lancet Neurology, 2020; 19(2), 170–178 DOI: 10.1016/S1474-4422(19)30287-X

  The current knowledge of PD genetics, along with the most recent developments, are reviewed.

• Clinical Genome Resource (ClinGen)

  View the PD gene-disease validity classifications approved by the ClinGen Parkinson’s Disease working group and gene curation panel.

• Movement Disorder Society Genetic Database (MDSGene)

  Comprehensive overview of clinical data from patients with PD reported to carry causative variants

• Podcast: What’s in your DNA? Understanding Parkinson’s Genetics

  Podcast hosted by the Michael J Fox Foundation outlining genetic influences on Parkinson’s disease

Genetic Testing for PD

• The Role of Genetic Testing for Parkinson’s Disease

  Cook L, Schulze J, Naito A, Alcalay RN. Current Neurology and Neuroscience Reports, 2021, 8;21(4)17. DOI: 10.1007/s11910-021-01100-7 . (also provides downloadable patient flier about genetic testing)

  Provides guidance on facilitating PD genetic testing in a clinical practice given the changing scene of genetic testing for PD. Also highlights the current practices and attitudes among neurologists regarding genetic testing for PD.

  *Provides downloadable patient flier about genetic testing

• Genetic Testing for Parkinson Disease: Are We Ready?

  Cook L, Schulze J, et al. Genetic Testing for Parkinson Disease: Are We Ready? Neurology: Clinical Pratice March 2020 DOI: 10.1212/CPJ.0000000000000831

  A review on the current genetic landscape of PD. Describes what genetic testing may offer, provides strategies for evaluating whom to test, and provides resources for the busy clinician.

• Podcast: Are we ready for gene testing in Parkinson’s?

  Dr. Roy Alcalay and Lola Cook Neurology® Journals Podcast, March 15, 2021

  Dr. Jeffrey Ratliff talks with genetic counselor, Lola Cook, and neurologist, Dr. Roy Alcalay, about genetic testing for PD.