Lees AJ, Hardy J, Revesz T (2009) Parkinson's disease. Lancet 373(9680):2055-66. https://doi.org/10.1016/S0140-6736(09)60492-X. Erratum in: Lancet. 2009 Aug 29;374(9691):684

Velez-Pardo C, Lorenzo-Betancor O, Jimenez-Del-Rio M, Moreno S, Lopera F, Cornejo-Olivas M et al (2019) The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru. Parkinsonism Relat Disord 63:204–208. https://doi.org/10.1016/j.parkreldis.2019.01.030

Article  PubMed  PubMed Central  Google Scholar 

Salles P, Tirapegui JM, Chaná-Cuevas P (2024) Genetics of Parkinson's disease: Dominant forms and GBA. Neurology Perspectives 2267–0496. https://doi.org/10.1016/j.neurop.2024.100153.

Menozzi E, Schapira AHV (2021) Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers. Front Neurol. https://doi.org/10.3389/fneur.2021.694764

Article  PubMed  PubMed Central  Google Scholar 

Vieira SRL, Mezabrovschi R, Toffoli M, Del Pozo SL, Menozzi E, Mullin S et al (2024) Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson’s Disease. Mov Disord. https://doi.org/10.1002/mds.30006

Article  PubMed  PubMed Central  Google Scholar 

Vianna EQ, Piergiorge RM, Gonçalves AP, Dos Santos JM, Calassara V, Rosenberg C et al (2020) Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing. Mol Neurobiol 57(9):3671–3684. https://doi.org/10.1007/s12035-020-01981-8

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 17(5):405–24. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A et al (2016) The Ensembl Variant Effect Predictor. Genome Biol 17(1):122. https://doi.org/10.1186/s13059-016-0974-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J et al (2009) Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 66(5):571–576. https://doi.org/10.1001/archneurol.2009.72

Article  PubMed  Google Scholar 

Xie Y, Li H, Luo X, Li H, Gao Q, Zhang L et al (2022) IBS 2.0: an upgraded illustrator for the visualization of biological sequences. Nucleic Acids Res 50(W1):W420–W426. https://doi.org/10.1093/nar/gkac373

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ron I, Horowitz M (2005) ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 14(16):2387–2398. https://doi.org/10.1093/hmg/ddi240

Article  CAS  PubMed  Google Scholar 

Leiden Open Variation Database (LOVD) (2024). GBA variant database. https://databases.lovd.nl/shared/variants/GBA. Accessed 15 July 2024.

Rozenberg R, Fox DC, Sobreira E, Pereira LV (2006) Detection of 12 new mutations in Gaucher disease Brazilian patients. Blood Cells Mol Dis 37(3):204–209. https://doi.org/10.1016/j.bcmd.2006.09.004

Article  CAS  PubMed  Google Scholar 

McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A et al (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 27(4):526–532. https://doi.org/10.1002/mds.24945

Article  PubMed  PubMed Central  Google Scholar 

Riboldi GM, Di Fonzo AB (2019) GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches. Cells 8(4):364. https://doi.org/10.3390/cells8040364

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC et al (2008) Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 65(3):379–382. https://doi.org/10.1001/archneurol.2007.68

Article  PubMed  PubMed Central  Google Scholar 

Collins LM, Williams-Gray CH, Morris E, Deegan P, Cox TM, Barker RA (2018) The motor and cognitive features of Parkinson’s disease in patients with concurrent Gaucher disease over 2 years: a case series. J Neurol 265(8):1789–1794. https://doi.org/10.1007/s00415-018-8908-6

Article  CAS  PubMed  PubMed Central  Google Scholar 

Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E (2008) The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 65(10):1353–1357. https://doi.org/10.1001/archneur.65.10.1353

Article  PubMed  PubMed Central  Google Scholar 

Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ et al (2000) Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 66(6):1777–1786. https://doi.org/10.1086/302925

Article  CAS  PubMed  PubMed Central  Google Scholar 

Slatkin M (2004) A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet 75(2):282–293. https://doi.org/10.1086/423146

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hughes DA, Pastores GM (2015) Eliglustat for Gaucher’s disease: trippingly on the tongue. Lancet 385(9985):2328–2330. https://doi.org/10.1016/S0140-6736(15)60206-9

Article  PubMed  Google Scholar 

Krause A, Seymour H, Ramsay M (2018) Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. Annu Rev Genomics Hum Genet 19:149–175. https://doi.org/10.1146/annurev-genom-083117-021256

Article  CAS  PubMed  Google Scholar 

Park JK, Koprivica V, Andrews DQ, Madike V, Tayebi N, Stone DL et al (2001) Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. Am J Med Genet 99(2):147–151. https://doi.org/10.1002/1096-8628(2001)9999:9999%3c::aid-ajmg1144%3e3.0.co;2-1

Article  CAS  PubMed  Google Scholar 

Arndt S, Heitner R, Lane A, Ramsay M (2009) Glucocerebrosidase gene mutations in black South Africans with Gaucher disease. Blood Cells Mol Dis 43(1):129–133. https://doi.org/10.1016/j.bcmd.2009.02.008

Article  CAS  PubMed  Google Scholar 

Mahungu AC, Anderson DG, Rossouw AC, van Coller R, Carr JA, Ross OA et al (2020) Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson’s disease. Neurobiol Aging 88:156.e11-156.e14. https://doi.org/10.1016/j.neurobiolaging.2019.12.011

Article  CAS  PubMed  Google Scholar 

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER et al (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med 361(17):1651–1661. https://doi.org/10.1056/NEJMoa0901281

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C et al (2011) Large-scale screening of the Gaucher’s disease-related glucocerebrosidase gene in Europeans with Parkinson’s disease. Hum Mol Genet 20(1):202–210. https://doi.org/10.1093/hmg/ddq454

Article  CAS  PubMed  Google Scholar 

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

Article  CAS  PubMed  Google Scholar 

Vieira SRL, Schapira AHV (2022) Glucocerebrosidase mutations and Parkinson disease. J Neural Transm (Vienna) 129(9):1105–1117. https://doi.org/10.1007/s00702-022-02531-3

Article  PubMed