Parkinson’s syndrome in a patient with Gaucher disease type 1– a case report
Keywords:
Parkinson’s syndrome, Gaucher disease type 1Abstract
Gaucher disease is the most prevalent lysosomal storage disease. It is classified in three types. Gaucher type 1 is the most common and has been classically considered a systemic disorder with no neurological involvement, while type 2 and 3 are with neurological involvement. Currently we know that Gaucher disease type 1 patients have significantly increased risk to develop Parkinson disease compared to the general population.
We present the first Bulgarian patient with both a Gaucher disease type 1 and Parkinson syndrome.
References
Milanov, I., Bojinova, V., & Tournev, I. (2020). Consensus position statement for the diagnosis and treatment of lysosomal storage diseases with neurological manifestations . Bulgarian Neurology, 21(S2), 1–18. Retrieved from https://www.nevrologiabg.com/journal/index.php/neurology/article/view/30
Abdelwahab, M., Blankenship, D., Schiffmann, R. Long‐term follow‐up and sudden unexpected death in Gaucher disease type 3 in Egypt. Neurol Genet. 2016, 2, 55.
Balestrino, R., Schapira, A. H. Glucocerebrosidase and Parkinson disease: Molecular, clinical, and therapeutic implications. Neuroscientist, 2018, 24, 5, 540-559.
Bembi. B., Zambito Marsala, S., Sidransky, E., Ciana, G., Carrozzi, M., Zorzon, M., Martini, C., Gioulis, M., Pittis, M. G., Capus, L. Gaucher’s disease with Parkinson’s disease Clinical and pathological aspects. Neurology, 2003, 61, 1, 99-101
Bultron, G., Kacena, K., Pearson, D., Boxer, M., Yang, R., Sathe, S., Pastores, G., Mistry, P.K. The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis. 2010, Apr, 33, 2, 167-173.
Cook, L., Schulze, J. Connecting Gaucher and Parkinson disease: Considerations for clinical and research genetic counseling settings. Journal of Genetic Counseling, 2017, 26, 6, 1165-1172.
De Marco, E.V., Annesi, G., Tarantino, P., Francesca, F.E., Provenzano, G., Civitelli, D., Candiano, I., Annesi, F., Carrideo, S., Condino, F., Nicoletti, G., Messina, D., Novellino, F., Morelli, M., Quattrone, A. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov Disord. 2008, 23, 460-463.
Eto, Y., Ida, H. Clinical and molecular characteristics of Japanese Gaucher disease. Neurochem Res. 1999, 24, 207‐211.
Gan-Or, Z., Giladi, N., Rozovski, U., Shifrin, C., Rosner, S., Gurevich, J., Bar-Shira, A., Orr-Urtreger, A. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology. 2008, 70, 2277-2283.
Gatto, E. M., Da Prat, G., Etcheverry, J. L., Drelichman, G., Cesarini, M. Parkinsonisms and Glucocerebrosidase Deficiency: A comprehensive review for molecular and cellular mechanism of glucocerebrosidase deficiency. Brain Sci. 2019, 2, 9, 30.
Machaczka, M., Rucinska, M., Skotinicki, A. B., Jutczak, W. Parkinson’s Syndrome preceding clinical manifestation of Gaucher’s Disease. American Journal of Hematology 1999, 61, 216-219.
McNeill, A., Duran, R., Proukakis, C., Bras, J., Hughes, D., Mehta, A., Hardy, J., Wood, N.W., Schapira, A.H. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov. Disord. 2012, 27, 526-532.
Mignot, C., Gelot, A., Billette De Villemeur, T. Gaucher disease. Handbook of Clinical Neurology, 2013, 113, 3, 1709-1715.
Neudorfer, O., Giladi, N., Elstein, D., Abrahamov, A., Turezkite, T., Aghai, E., Zimran, A. (1996). Occurrence of Parkinson's syndrome in type 1 Gaucher disease. Quarterly Journal of Medicine: Monthly Journal of the Association of Physicians, 1996, 89, 9, 691-694.
Pastores, G.M., Hughes, D.A. Gaucher disease 2000 Jul 27 In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, LJH B, Stephens K, Amemiya A, editors. GeneReviews. Seattle: University of Washington, Seattle, 1993.
Ren, J., Zhang, R., Pan, C., Xu, J., Sun, H., Hua, P., Zhang, L., Zhang, W., Xu, P., Ma, C., Liu, W. Prevalence and genotype–phenotype correlations of GBA‐related Parkinson disease in a large Chinese cohort. Eur. J. Neurology, 2022, 4, 29, 1017-1024.
Rosenbloom, B., Balwani, M., Bronstein, J. M., Kolodny, E., Sathe, S., Gwosdow, A. R., Weinreb, N. J. The incidence of Parkinsonism in patients with type 1 Gaucher disease: Data from the ICGG Gaucher Registry. Blood Cells, Molecules & Diseases, 2011, 46, 1, 95-102.
Schapira, A. H. Glucocerebrosidase and Parkinson disease: Recent advances. Mol. Cell Neurosci. 2015, 66, 37-42.
Schiffmann, R., Sevigny, J., Rolfs, A., Davies, E.H., Goker-Alpan, O., Abdelwahab, M., Vellodi, A., Mengel, E., Lukina, E., Yoo, H.W., Collin-Histed, T., Narita, A., Dinur, T., Revel-Vilk, S., Arkadir, D., Szer, J., Wajnrajch, M., Ramaswami, U., Sidransky, E., Donald, A., Zimran, A. The definition of neuronopathic Gaucher disease. J Inherit Metab Dis. 2020, 1-4.
Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., Brassier, A., Rose, C., Billette de Villemeur, T., Berger, M.G. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017, 18, 2, 441-470.
Tayebi, N., Walker, J., Stubblefield, B. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab. 2003, 79, 2, 104-109.
Tayebi, N., Callahan, M., Madike, V., Stubblefield, B.K., Orvisky, E., Krasnewich, D., Fillano, J.J., Sidransky, E. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab. 2001, 73, 313-321.
Varkonyi, J., Simon, Z., Soos, K., Poros, A. Gaucher disease type I complicated with Parkinson's syndrome. Haematologia (Budap) 2002, 32, 271-275.
Yun, S.P., Kim, D., Kim, S., Kim, S.М., Karuppagounder, S.S., Kwon, S.H., Lee, S., Kam, T.I., Lee, S., Ham, S., Park, J. H., Dawson, V.L., Dawson, T.M., Lee, Y., Seok Ko, H. α- Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism. Mol. Neurodegener. 2018, 13, 1.
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