Gaucher Disease Differential Diagnoses

1. Vitner EB, Farfel-Becker T, Eilam R, Biton I, Futerman AH. Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. Brain. 2012 Jun. 135(Pt 6):1724-35. [QxMD MEDLINE Link].

2. Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008 Oct 4. 372(9645):1263-71. [QxMD MEDLINE Link].

3. Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, et al. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008 Dec. 83(12):896-900. [QxMD MEDLINE Link].

4. Gary SE, Ryan E, Steward AM, Sidransky E. Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab. 2018 Mar. 13 (2):107-118. [QxMD MEDLINE Link].

5. Westbroek W, Gustafson AM, Sidransky E. Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol Med. 2011 Sep. 17(9):485-93. [QxMD MEDLINE Link]. [Full Text].

6. Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008 May. 29(5):567-83. [QxMD MEDLINE Link].

7. Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics. 2008 Dec. 122(6):1182-90. [QxMD MEDLINE Link].

8. Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22. 361(17):1651-61. [QxMD MEDLINE Link]. [Full Text].

9. Siebert M, Sidransky E, Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain. 2014 May. 137:1304-22. [QxMD MEDLINE Link]. [Full Text].

10. Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013 Jun. 70(6):727-35. [QxMD MEDLINE Link]. [Full Text].

11. Arkadir D, Dinur T, Revel-Vilk S, Becker Cohen M, Cozma C, Hovakimyan M, et al. Glucosylsphingosine is a reliable response biomarker in Gaucher disease. Am J Hematol. 2018 Jun. 93 (6):E140-E142. [QxMD MEDLINE Link].

12. Sidransky E, Pastores GM, Mori M. Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?. Genet Med. 2009 Feb. 11(2):90-1. [QxMD MEDLINE Link]. [Full Text].

13. Cerdelga (eliglustat) prescribing information. [package insert]. IDA Industrial Park, Old Kilmeaden Road, Waterford, Ireland: Genzyme Ireland, Ltd. August 2014.

14. Lowes, R. Medscape Medical News. FDA Clears Eliglustat (Cerdelga) for Gaucher Disease. Available at http://www.medscape.com/viewarticle/830172.

15. Harrison L. Evidence Mounting for Eliglustat in Gaucher's Disease. Medscape Medical News. Available at http://www.medscape.com/viewarticle/834451. Accessed: November 10, 2014.

16. Zimran A, Altarescu G, Phillips M, Attias D, Jmoudiak M, Deeb M. Phase I/II and extension study of velaglucerase alfa (Gene-ActivatedTM human glucocerebrosidase) replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood. 2010 Mar 18. [QxMD MEDLINE Link].

17. Sidransky E, Pastores GM, Mori M. Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?. Genet Med. 2009 Feb. 11(2):90-1. [QxMD MEDLINE Link]. [Full Text].

18. Hollak CE. An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease. Core Evid. 2012. 7:15-20. [QxMD MEDLINE Link]. [Full Text].

19. Mamopoulos AM, Hughes DA, Tuck SM, Mehta AB. Gaucher disease and pregnancy. J Obstet Gynaecol. 2009 Apr. 29(3):240-2. [QxMD MEDLINE Link].

20. AH Futerman and A Zimran. Gaucher Disease. Boca Raton, FL: CRC Press; 2006.

21. Amato D, Stachiw T, Clarke JT, Rivard GE. Gaucher disease: variability in phenotype among siblings. J Inherit Metab Dis. 2004. 27(5):659-69. [QxMD MEDLINE Link].

22. Andersson HC, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med. 2005 Feb. 7(2):105-10. [QxMD MEDLINE Link].

23. Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991 May 23. 324(21):1464-70. [QxMD MEDLINE Link].

24. Beutler E. Lysosomal storage diseases: natural history and ethical and economic aspects. Mol Genet Metab. 2006 Jul. 88(3):208-15. [QxMD MEDLINE Link].

25. Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis. 2005 Nov-Dec. 35(3):355-64. [QxMD MEDLINE Link].

26. Beutler E, Grabowski GA, CR Scriver, et al Eds. The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York. 2001. 3635-68.

27. Bohlega S, Kambouris M, Shahid M, et al. Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). Neurology. 2000 Jan 11. 54(1):261-3. [QxMD MEDLINE Link].

28. Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr. 2004 Jan. 144(1):112-20. [QxMD MEDLINE Link].

29. Cox TM, Aerts JM, Andria G, et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis. 2003. 26(6):513-26. [QxMD MEDLINE Link].

30. 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 May 7. [QxMD MEDLINE Link]. [Full Text].

31. Futerman AH, Zimran A. Gaucher Disease. CRC Press, Boca Raton, FL. 2006.

32. Goker-Alpan O, Schiffmann R, Park JK, et al. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr. 2003 Aug. 143(2):273-6. [QxMD MEDLINE Link].

33. Grabowski GA, Kacena K, Cole JA, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009 Feb. 11(2):92-100. [QxMD MEDLINE Link].

34. Grabowski GA, Leslie N, Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev. 1998 Jun. 12(2):115-33. [QxMD MEDLINE Link].

35. Itzchaki M, Lebel E, Dweck A, et al. Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy. Acta Orthop Scand. 2004 Dec. 75(6):641-53. [QxMD MEDLINE Link].

36. Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005 Apr. 129(2):178-88. [QxMD MEDLINE Link].

37. Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet. 2000 Jun. 66(6):1777-86. [QxMD MEDLINE Link]. [Full Text].

38. [Guideline] Langlois S, Wilson RD. Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent. J Obstet Gynaecol Can. 2006 Apr. 28(4):324-43. [QxMD MEDLINE Link].

39. Lwin A, Orvisky E, Goker-Alpan O, et al. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab. 2004 Jan. 81(1):70-3. [QxMD MEDLINE Link].

40. Mistry PK, Abrahamov A. A practical approach to diagnosis and management of Gaucher's disease. Baillieres Clin Haematol. 1997 Dec. 10(4):817-38. [QxMD MEDLINE Link].

41. Mitsui J, Mizuta I, Toyoda A, Ashida R, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009 May. 66(5):571-6. [QxMD MEDLINE Link].

42. NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease. Current issues in diagnosis and treatment. JAMA. 1996 Feb 21. 275(7):548-53. [QxMD MEDLINE Link].

43. Park JK, Orvisky E, Tayebi N, et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res. 2003 Mar. 53(3):387-95. [QxMD MEDLINE Link].

44. Sibille A, Eng CM, Kim SJ, et al. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet. 1993 Jun. 52(6):1094-101. [QxMD MEDLINE Link]. [Full Text].

45. Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab. 2004 Sep-Oct. 83(1-2):6-15. [QxMD MEDLINE Link].

46. Svennerholm L, Erikson A, Groth CG, et al. Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. Dev Neurosci. 1991. 13(4-5):345-51. [QxMD MEDLINE Link].

47. Tayebi N, Stone DL, Sidransky E. Type 2 Gaucher disease: an expanding phenotype. Mol Genet Metab. 1999 Oct. 68(2):209-19. [QxMD MEDLINE Link].

48. Tayebi N, Stubblefield BK, Park JK, et al. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet. 2003 Mar. 72(3):519-34. [QxMD MEDLINE Link].

49. Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol. 2004 Oct. 41(4 Suppl 5):15-22. [QxMD MEDLINE Link].

50. Wenstrup RJ, Roca-Espiau M, Weinreb NJ, Bembi B. Skeletal aspects of Gaucher disease: a review. Br J Radiol. 2002. 75 Suppl 1:A2-12. [QxMD MEDLINE Link]. [Full Text].

51. Zimran A. How I treat Gaucher disease. Blood. 2011 Aug 11. 118(6):1463-71. [QxMD MEDLINE Link].

52. Zimran A, Altarescu G, Rudensky B, et al. Survey of hematological aspects of Gaucher disease. Hematology. 2005 Apr. 10(2):151-6. [QxMD MEDLINE Link].

Ellen Sidransky, MD Senior Investigator, Chief, Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, NIH

Ellen Sidransky, MD is a member of the following medical societies: American Society of Human Genetics, International Parkinson and Movement Disorder Society, Society for Pediatric Research, Society for Inherited Metabolic Disorders

Disclosure: Nothing to disclose.

Emory Ryan, MSN, CPNP-PC Research Nurse Practitioner, Clinical Coordinator, Medical Genetics Branch, National Human Genome Research Institute

Emory Ryan, MSN, CPNP-PC is a member of the following medical societies: American Academy of Pediatrics, National Association of Pediatric Nurse Practitioners

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Robert D Steiner, MD, FAAP, FACMG Professor (Clinical), Department of Pediatrics, University of Wisconsin School of Medicine and Public Health; Editor-in-Chief, Genetics in Medicine; Chief Medical Officer, PreventionGenetics

Robert D Steiner, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: PreventionGenetics, ACMG, Acer Therapeutics, Biomarin; Best Doctors, Health Advances, Precision for Health, PTC Therapeutics, CTX Alliance, Aeglea, Eton, Leadiant<br/>Serve(d) as a speaker or a member of a speakers bureau for: France Foundation, Medscape<br/>Received research grant from: Alexion<br/>Received income in an amount equal to or greater than $250 from: Marshfield Clinic, France Foundation, Medscape, PreventionGenetics, ACMG, Acer Therapeutics; Raptor, Retrophin/Travere, Censa; Biomarin; Best Doctors, Health Advances, Precision for Health, PTC Therapeutics, Aeglea, Leadiant<br/>Travel Support for: CTX Alliance.

The author acknosledges the assistance of Mary E. LaMarca, who co-authored the initial version of this chapter prior to her death in 2010.

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