A Review of Type 3 Gaucher Disease: Unique Neurological Manifestations and Advances in Treatment

Overview

Journal Acta Neurol Belg

Publisher Springer

Specialty Neurology

Date 2024 Feb 27

PMID 38413480

Authors

Wei Zhong

Dan Li

Yue Fei

Pan Hong

Affiliations

Soon will be listed here.

Abstract

Gaucher disease (GD) is a rare lysosomal storage disease that is caused by mutations in the GBA gene. It is classified into three main phenotypes according to the patient's clinical presentation. Of these, chronic neuronopathic GD (GD3) is characterized by progressive neurological damage. Understanding the unique neurological manifestations of GD3 has important diagnostic and therapeutic implications. Our article summarizes the neurological symptoms specific to GD3 and related therapeutic advances, and it highlights the relevance of the gene to clinical symptoms, so as to provide a reference for the diagnosis and treatment of GD3.

References

Beavan M, Schapira A . Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann Med. 2013; 45(8):511-21. DOI: 10.3109/07853890.2013.849003. View

Grabowski G, Zimran A, Ida H . Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015; 90 Suppl 1:S12-8. DOI: 10.1002/ajh.24063. View

Grabowski G . Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008; 372(9645):1263-71. DOI: 10.1016/S0140-6736(08)61522-6. View

Gary S, Ryan E, Steward A, Sidransky E . Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab. 2018; 13(2):107-118. PMC: 6129380. DOI: 10.1080/17446651.2018.1445524. View

Goker-Alpan O, Schiffmann R, Park J, Stubblefield B, Tayebi N, Sidransky E . Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr. 2003; 143(2):273-6. DOI: 10.1067/S0022-3476(03)00302-0. View

Schwartz I, Goker-Alpan O, Kishnani P, Zimran A, Renault L, Panahloo Z . Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey. Mol Genet Metab Rep. 2018; 14:73-79. PMC: 5758841. DOI: 10.1016/j.ymgmr.2017.10.011. View

Winter A, Salimi A, Ospina L, Roos J . Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder. Br J Ophthalmol. 2019; 103(3):315-326. DOI: 10.1136/bjophthalmol-2018-312846. View

Castillon G, Chang S, Moride Y . Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review. J Clin Med. 2023; 12(1). PMC: 9821068. DOI: 10.3390/jcm12010085. View

Nguyen Y, Stirnemann J, Belmatoug N . [Gaucher disease]. Rev Prat. 2020; 70(4):416-420. View

10.

Weinreb N, Goker-Alpan O, Kishnani P, Longo N, Burrow T, Bernat J . The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?. Mol Genet Metab. 2022; 136(1):4-21. DOI: 10.1016/j.ymgme.2022.03.001. View

11.

Riboldi G, Di Fonzo A . , Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches. Cells. 2019; 8(4). PMC: 6523296. DOI: 10.3390/cells8040364. View

12.

Taddei T, Kacena K, Yang M, Yang R, Malhotra A, Boxer M . The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009; 84(4):208-14. PMC: 3008404. DOI: 10.1002/ajh.21362. View

13.

Tajima A, Yokoi T, Ariga M, Ito T, Kaneshiro E, Eto Y . Clinical and genetic study of Japanese patients with type 3 Gaucher disease. Mol Genet Metab. 2009; 97(4):272-7. DOI: 10.1016/j.ymgme.2009.05.001. View

14.

Jeong S, Park S, Kim H . Clinical and genetic characteristics of Korean patients with Gaucher disease. Blood Cells Mol Dis. 2010; 46(1):11-4. DOI: 10.1016/j.bcmd.2010.07.010. View

15.

El-Morsy Z, Khashaba M, Soliman O, Yahia S, El-Hady D . Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes. World J Pediatr. 2011; 7(4):326-30. DOI: 10.1007/s12519-011-0309-1. View

16.

Choy F, Zhang W, Shi H, Zay A, Campbell T, Tang N . Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol Dis. 2007; 38(3):287-93. DOI: 10.1016/j.bcmd.2006.11.003. View

17.

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(2):e55. PMC: 4830203. DOI: 10.1212/NXG.0000000000000055. View

18.

Bennett L, Mohan D . Gaucher disease and its treatment options. Ann Pharmacother. 2013; 47(9):1182-93. DOI: 10.1177/1060028013500469. View

19.

Casta A, Hayden K, WOLF W . Calcification of the ascending aorta and aortic and mitral valves in Gaucher's disease. Am J Cardiol. 1984; 54(10):1390-1. DOI: 10.1016/s0002-9149(84)80115-0. View

20.

Kurolap A, Del Toro M, Spiegel R, Gutstein A, Shafir G, Cohen I . Gaucher disease type 3c: New patients with unique presentations and review of the literature. Mol Genet Metab. 2019; 127(2):138-146. DOI: 10.1016/j.ymgme.2019.05.011. View