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DOI: 10.1055/s-0036-1582253
Neuronopathic Gaucher Disease
Publication History
10 December 2015
21 January 2016
Publication Date:
26 April 2016 (online)
Abstract
Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in this latter form, however, such manifestations are different and, in the majority of cases, of much less severity than those associated with types 2 and 3 GD. Significant advances in therapy have been achieved, primarily after the advent of enzyme replacement therapy (ERT). As it occurs in patients with type 1 GD, ERT is able to reverse systemic and extraneurological manifestations of type 3 GD, although evidence suggests that ERT is not able to prevent the progression of neurological involvement in the long term. Thus, it is necessary to better understand the pathophysiological mechanism underlying neurological involvement in GD patients, allowing the development of new therapeutic approaches capable of improving central nervous system manifestations in GD.
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References
- 1 Beutler E, Grabowski GA. Glucosylceramid lipidoses: Gaucher disease. In: Scriver CR, Baudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 1995: 2641-2670
- 2 Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl 2006; 95 (451) 103-109
- 3 Brady RO, Barton NW, Grabowski GA. The role of neurogenetics in Gaucher disease. Arch Neurol 1993; 50 (11) 1212-1224
- 4 Chérin P, Rose C, de Roux-Serratrice C , et al. The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). J Inherit Metab Dis 2010; 33 (4) 331-338
- 5 Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet 2004; 41 (12) 937-940
- 6 Tsuang D, Leverenz JB, Lopez OL , et al. GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology 2012; 79 (19) 1944-1950
- 7 Ziegler SG, Eblan MJ, Gutti U , et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab 2007; 91 (2) 195-200
- 8 Pastores GM. Neuropathic Gaucher disease. Wien Med Wochenschr 2010; 160 (23–24) 605-608
- 9 Vellodi A, Tylki-Szymanska A, Davies EH , et al; European Working Group on Gaucher Disease. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 2009; 32 (5) 660-664
- 10 Charrow J, Andersson HC, Kaplan P , et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000; 160 (18) 2835-2843
- 11 Erikson A. Gaucher disease—Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand Suppl 1986; 326: 1-42
- 12 Tylki-Szymañska A, Keddache M, Grabowski GA. Characterization of neuronopathic Gaucher disease among ethnic Poles. Genet Med 2006; 8 (1) 8-15
- 13 Abrahamov A, Elstein D, Gross-Tsur V , et al. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 1995; 346 (8981) 1000-1003
- 14 Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 2000; 15 (2) 181-188
- 15 Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008; 29 (5) 567-583
- 16 Schueler UH, Kolter T, Kaneski CR , et al. Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. Neurobiol Dis 2003; 14 (3) 595-601
- 17 Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, Sidransky E, Schiffmann R, Futerman AH. Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis 2005; 18 (1) 83-88
- 18 Farfel-Becker T, Vitner EB, Kelly SL , et al. Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration. Hum Mol Genet 2014; 23 (4) 843-854
- 19 Kim EY, Hong YB, Go SH, Lee B, Jung SC. Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease. Exp Mol Med 2006; 38 (4) 348-356
- 20 Vitner EB, Salomon R, Farfel-Becker T , et al. RIPK3 as a potential therapeutic target for Gaucher's disease. Nat Med 2014; 20 (2) 204-208
- 21 Vaccaro AM, Motta M, Tatti M , et al. Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting. Hum Mol Genet 2010; 19 (15) 2987-2997
- 22 Tayebi N, Stone DL, Sidransky E. Type 2 gaucher disease: an expanding phenotype. Mol Genet Metab 1999; 68 (2) 209-219
- 23 Gupta N, Oppenheim IM, Kauvar EF, Tayebi N, Sidransky E. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol Dis 2011; 46 (1) 75-84
- 24 Tylki-Szymańska A, Vellodi A, El-Beshlawy A, Cole JA, Kolodny E. Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis 2010; 33 (4) 339-346
- 25 Mignot C, Gelot A, Bessières B , et al. Perinatal-lethal Gaucher disease. Am J Med Genet A 2003; 120A (3) 338-344
- 26 Tayebi N, Reissner KJ, Lau EK , et al. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease. Pediatr Res 1998; 43 (5) 571-578
- 27 Mignot C, Doummar D, Maire I, De Villemeur TB ; French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 2006; 28 (1) 39-48
- 28 Kolodny EH, Ullman MD, Mankin HJ, Raghavan SS, Topol J, Sullivan JL. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients. Prog Clin Biol Res 1982; 95: 33-65
- 29 Park JK, Orvisky E, Tayebi N , et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res 2003; 53 (3) 387-395
- 30 Pavone P, Spalice A, Polizzi A, Parisi P, Ruggieri M. Ohtahara syndrome with emphasis on recent genetic discovery. Brain Dev 2012; 34 (6) 459-468
- 31 Pavone P, Striano P, Falsaperla R, Pavone L, Ruggieri M. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013. Brain Dev 2014; 36 (9) 739-751
- 32 Kraoua I, Sedel F, Caillaud C , et al. A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients. Brain Dev 2011; 33 (2) 131-139
- 33 Dreborg S, Erikson A, Hagberg B. Gaucher disease—Norrbottnian type. I. General clinical description. Eur J Pediatr 1980; 133 (2) 107-118
- 34 Grabowski GA, Andria G, Baldellou A , et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 2004; 163 (2) 58-66
- 35 Jeong SY, Park SJ, Kim HJ. Clinical and genetic characteristics of Korean patients with Gaucher disease. Blood Cells Mol Dis 2011; 46 (1) 11-14
- 36 Tylki-Szymańska A, Czartoryska B. Enzyme replacement therapy in type III Gaucher disease. J Inherit Metab Dis 1999; 22 (2) 203-204
- 37 Giraldo P, Capablo JL, Alfonso P, Latre P, García B, Pocoví M. Grupo Español sobre Enfermedad de Gaucher. Neurological manifestations inpatients with Gaucher disease and in their relatives. Med Clin (Barc) 2008; 13: 175-179
- 38 DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord 2009; 24 (11) 1571-1578
- 39 Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. ‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis 2008; 31 (3) 337-349
- 40 Patay Z. Metabolic disorders. In: Tortori-Donati P, ed. Pediatric Neuroradiology. Brain. Berlin: Springer-Verlag; 2005: 543-722
- 41 Barkovich AJ. Pediatric Neuroradiology. 5th ed. Baltimore, MD: Lippincott Williams & Wilkins; 2012
- 42 Machaczka M, Rucinska M, Skotnicki AB, Jurczak W. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am J Hematol 1999; 61 (3) 216-217
- 43 Tayebi N, Callahan M, Madike V , et al. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 2001; 73 (4) 313-321
- 44 Neudorfer O, Giladi N, Elstein D , et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 1996; 89 (9) 691-694
- 45 Tayebi N, Walker J, Stubblefield B , et al. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?. Mol Genet Metab 2003; 79 (2) 104-109
- 46 Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 2008; 65 (10) 1353-1357
- 47 Halperin A, Elstein D, Zimran A. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis 2006; 36 (3) 426-428
- 48 Sidransky E, Nalls MA, Aasly JO , et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009; 361 (17) 1651-1661
- 49 Bras J, Singleton A, Cookson MR, Hardy J. Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J 2008; 275 (23) 5767-5773
- 50 Beutler E, Beutler L, West C. Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease. J Lab Clin Med 2004; 144 (2) 65-68
- 51 Bultron G, Kacena K, Pearson D , et al. The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis 2010; 33 (2) 167-173
- 52 Ida H, Rennert OM, Iwasawa K, Kobayashi M, Eto Y. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum Genet 1999; 105 (1–2) 120-126
- 53 Uyama E, Takahashi K, Owada M , et al. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. Acta Neurol Scand 1992; 86 (4) 407-420
- 54 Machaczka M. Allogeneic hematopoietic stem cell transplantation for treatment of Gaucher disease. Pediatr Hematol Oncol 2013; 30 (5) 459-461
- 55 Altarescu G, Hill S, Wiggs E , et al. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. J Pediatr 2001; 138 (4) 539-547
- 56 Tajima A, Yokoi T, Ariga M , et al. Clinical and genetic study of Japanese patients with type 3 Gaucher disease. Mol Genet Metab 2009; 97 (4) 272-277
- 57 Sechi A, Deroma L, Dardis A , et al. Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients. Mol Genet Metab 2014; 113 (3) 213-218
- 58 Schiffmann R, Fitzgibbon EJ, Harris C , et al. Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann Neurol 2008; 64 (5) 514-522