The PSG 32nd Annual Meeting

34th Annual Symposium

June 2-5, 2022

Phoenix, AZ

Pre-Course Materials

Genetics Counseling & Testing for PD

1. Pivotal papers/Practice Guidelines:
* The starred references are considered the recommended and/or most comprehensive resources for each of the following categories. Additional references are included for more detailed information and/or historical context.


Blauwendraat C, Nalls MA, and Singleton AB. (2020). The genetic architecture of Parkinson’s disease. The Lancet Neurology, 19(2), 170–178. DOI: 10.1016/S1474-4422(19)30287-X Recent data regarding GWAS studies

* Balestrino R, Schapira AHV. (2020). Parkinson disease. Eur J Neurol. 27(1):27-42. DOI: 10.1111/ene.14108 Review (clinical features)

Cook Shukla L, Schulze J, Farlow J, Pankratz ND, Wojcieszek J, Foroud T. Parkinson Disease Overview [Internet]. University of Washington, Seattle; 2019 [cited 2019 Sep 24]. Available from: GeneReviews

* Kim CY, and Alcalay RN. (2017). Genetic Forms of Parkinson’s Disease. Semin Neurol, 37(2):135–46. DOI: 10.1055/s-0037-1601567 Overview of the genetic aspects of PD

Genetic Testing:

Alcalay R N, Kehoe C, Shorr E, Battista R, Hall A, Simuni T, et al. (2019). Genetic testing for Parkinson disease: Current practice, knowledge, and attitudes among US and Canadian movement disorders specialists. Genetics in Medicine. DOI: 10.1038/s41436-019-0684-x

* Cook L, Schulze J, Kopil C, Hastings T, Naito A, Wojcieszek J, et al. (2020). Genetic testing for Parkinson disease. Neurology: Clinical Practice, 10. DOI: 10.1212/CPJ.0000000000000831

Cook L, Schulze J, Naito A, Alcalay RN. (2020). The Role of Genetic Testing for Parkinson’s Disease.
Accepted for publication 01/2021; will include a patient-facing flyer/handout

Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, et al. (2009). EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias. Eur J Neurol, 16(7):777–85. DOI: 10.1111/j.1468-1331.2009.02646.x Please note that this is for historical context (has not been updated)

Roberts JS, and Uhlmann, WR. (2013). Genetic susceptibility testing for neurodegenerative diseases: ethical and practice issues. Prog Neurobiol, 110:89–101. DOI: 10.1016/j.pneurobio.2013.02.005

PD Knowledge, Attitudes of Patients:

Falcone DC, Wood EM, Xie SX, Siderowf A, Van Deerlin VM. (2011). Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest. J Genet Couns, 20(4):384–95. DOI: 10.1007/s10897-011-9362-0

Maloney KA, Alaeddin DS, von Coelln R, Dixon S, Shulman LM, Schrader K, and Guan, Y. (2018). Parkinson’s Disease: Patients’ Knowledge, Attitudes, and Interest in Genetic Counseling. J Genet Couns, 27(5):1200–9. DOI: 10.1007/s10897-018-0239-3

GBA, PD and Gaucher Disease:

Aharon-Peretz, J., Rosenbaum, S., and Gershoni-Baruch, R. (2004). Mutations in the Glucocerebrosidase Gene and Parkinson’s Disease in Ashkenazi Jews. N Engl J Med. DOI: 10.1056/NEJMoa033277. Please note that this is included for historical context

Balestrino, R., Tunesi, S., Tesei, S., Lopiano, L., Zecchinelli, A. L. and Goldwurm, S. (2020). Penetrance of GBA in PD: a Kin-Cohort study. Movement Disorders. DOI: 10.1002/mds.28200. Cook L, Schulze J. (2017). Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings. J Genet Couns, 26(6):1165–72. DOI: 10.1007/s10897-017-0123-6.

* Gan-or, Z., Amshalom, I., Kilarski, L. L., Bar-Shira, A., Gana-Weisz, M., Mirelman, A., Marder, K., Bressman, S., Giladi, N., and Orr-Urteger, A. (2015). Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology, 84(0): 880-7. DOI: 10.1212/WNL.0000000000001315. GBA risk meta-analysis

ORegan, G., deSouza, R., Balestrino, R., and Schapira, A. H. (2017). Glucocerebrosidase Mutations in Parkinson Disease. Journal of Parkinson’s Disease, 7(3): 411-422. DOI10.3233/JPD-171092

Rana, H. Q., Balwani, M., Bier, L., & Alcalay, R. N. (2013). Age-specific Parkinson disease risk in GBA mutation carriers: Information for genetic counseling. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 15(2), 146–149.

Riboldi, G. M., and Fonzo, A. B. (2019). GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches. Cells, 8(4):364. DOI: 10.3390/cells8040364.

Sidransky, E., Nalls, M. A., Aasly, J. O., Aharon-Peretz, J., Barbosa, E. R., Bar-Shira, A., et al. (2009). Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med, 361(17):1651-61. DOI: 10.1056/NEJMoa090128.

LLRK2 and PD:

Lee, A. J., Wang, Y., Alcalay, R. N., Mejia-Santana, H., Saunders-Pullman, R., Bressman, S., Corvol, J. C., Brice, A., Lesage, S., Mangone, G., Tolosa, E., Pnt-Sunyer, C., Vilas, D., Schule, B., Kausar, F., Faroud, T., Berg, D., Brockmann, K., Goldwurm, S.,… Michael J. Fox LRRK2 Cohort Consortium. (2017). Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry. Movement Disorders: Official Journal of the Movement Disorder Society, 32(10): 1432-1438. DOI: 10.1002/mds.27059.

Marder, K., Wang, Y., Alcalay, R. N., Mejia-Santana, H., Tang, M.-X., Lee, A., Raymond, D., Mirelman, A., Saunders-Pullman, R., Clark, L., Ozelius, L., Orr-Urtreger, A., Giladi, N., Bressman, S., & LRRK2 Ashkenazi Jewish Consortium. (2015). Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium. Neurology, 85(1), 89–95. DOI: 10.1212/WNL.0000000000001708.