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