Don’t Disregard Deep Brain Stimulation in Patients with Concomitant Gaucher and Parkinson Disease

Authors

  • Mafalda Seabra Centro Hospitalar e Universitário de São João
  • Carolina Lopes
  • Manuela Costa
  • Leonor Correia Guedes
  • Maria José Rosas

DOI:

https://doi.org/10.15540/nr.7.2.95

Keywords:

Parkinson’s disease, neuropsychology, Gaucher disease, GBA gene mutation

Abstract

Gaucher disease and Parkinson’s disease can co-occur, and mutations in the glucocerebrosidase (GBA) gene are considered the most common genetic association with Parkinson´s disease.  Response to pharmacological and surgical therapies is poorly studied.  We present the case of a patient diagnosed with Gaucher disease at 18 years old.  At 59 years old right foot dystonia was first noticed.  Levodopa was initiated and two years later motor dyskinesias were incapacitating.  Although neuropsychological testing showed frontal dysfunction, as the deficit was stable, subthalamic nucleus deep brain stimulation was tried in October 2017.  More than one year later the patient remains active and autonomous.

References

Anheim, M., Elbaz, A., Lesage, S., Durr, A., Condroyer, C., Viallet, F., ... Brice, A. (2012). Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology, 78(6), 417–420. https://doi.org/10.1212/WNL.0b013e318245f476

Balestrino, R., & Schapira, A. H. V. (2018). Glucocerebrosidase and Parkinson disease: Molecular, clinical, and therapeutic implications. The Neuroscientist, 24(5), 540–559. https://doi.org/10.1177/1073858417748875

Chetrit, E. B., Alcalay, R. N., Steiner-Birmanns, B., Altarescu, G., Phillips, M., Elstein, D., & Zimran, A. (2013). Phenotype in patients with Gaucher disease and Parkinson disease. Blood Cells, Molecules, and Diseases, 50(3), 218–221. https://doi.org/10.1016/j.bcmd.2012.11.011

Collins, L. M., Williams-Gray, C. H., Morris, E., Deegan, P., Cox, T. M., & Barker, R. A. (2018). The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: A case series. Journal of Neurology, 265(8), 1789–1794. https://doi.org/10.1007/s00415-018-8908-6

Elstein, D., Alcalay, R., & Zimran, A. (2015). The emergence of Parkinson disease among patients with Gaucher disease. Best Practice & Research Clinical Endocrinology & Metabolism, 29(2), 249–259. https://doi.org/10.1016/j.beem.2014.08.007

Goker-Alpan, O., Schiffmann, R., LaMarca, M. E., Nussbaum, R. L., McInerney-Leo, A., & Sidransky, E. (2004). Parkinsonism among Gaucher disease carriers. Journal of Medical Genetics, 41(12), 937–940. https://doi.org/10.1136/jmg.2004.024455

Lopez, G., Kim, J., Wiggs, E., Cintron, D., Groden, C., Tayebi, N., ... Sidransky, E. (2016). Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurology Genetics, 2(2), e57. https://doi.org/10.1212/NXG.0000000000000057

Lythe, V., Athauda, D., Foley, J., Mencacci, N. E., Jahanshahi, M., Cipolotti, L., ... Foltynie, T. (2017). GBA-associated Parkinson's disease: Progression in a deep brain stimulation cohort. Journal of Parkinson's Disease, 7(4), 635–644. https://doi.org/10.3233/JPD-171172

O'Regan, G., deSouza, R.-M., Balestrino, R., & Schapira, A. H. (2017). Glucocerebrosidase mutations in Parkinson disease. Journal of Parkinson's Disease, 7(3), 411–422. https://doi.org/10.3233/JPD-171092

Rodriguez-Porcel, F., Espay, A. J., & Carecchio, M. (2017). Parkinson disease in Gaucher disease. Journal of Clinical Movement Disorders, 4, 7. https://doi.org/10.1186/s40734-017-0054-2

Thaler, A., Bregman, N., Gurevich, T., Shiner, T., Dror, Y., Zmira, O., ... Mirelman, A. (2018). Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene. Parkinsonism & Related Disorders, 55, 45–49. https://doi.org/10.1016/j.parkreldis.2018.05.009

Downloads

Published

2020-06-26

Issue

Vol. 7 No. 2 (2020): .

Section

Clinical Corner

License

Authors who publish with this journal agree to the following terms:
  • Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License (CC-BY) that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
  • Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
  • Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).