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Journal of Inherited Metabolic Disease

, Volume 26, Issue 7, pp 641–645 | Cite as

A neurological symptom survey of patients with type I Gaucher disease

  • G. M. Pastores
  • N. L. Barnett
  • P. Bathan
  • E. H. Kolodny
Article

Abstract

Summary: Gaucher disease is an inborn error of glycosphingolipid metabolism resulting from deficiency of the lysosomal enzyme glucocerebrosidase. The majority of the patients (with type I disease) do not have primary central nervous system involvement. However, several studies have noted that secondary neurological complications may develop as a consequence of nerve root or spinal cord compression following vertebral body collapse or, for those with coagulation disorders, bleeding within confined compartments. An epidemiological survey was conducted to ascertain the incidence of neurological symptoms in patients with Gaucher disease type I (GD I). The survey included a review of the patients' medical history, an estimate of Gaucher disease severity according to a modified Symptom Severity Index (SSI), and completion of a questionnaire regarding their neurological status and Quality of Life (QoL) according to the SF-36 Health Survey. Seventy-three per cent of respondents were found to have experienced at least one neurological complaint in the preceding 3 months. Adult patients with Gaucher disease often have other medical problems unrelated to their primary diagnosis. Thus, the high incidence of neurological complaints in these patients may be attributable to concurrent medical problems and/or side-effects from concomitant medications. These issues may influence patients' assessment of their disease severity and/or response to treatment.

Keywords

Carpal Tunnel Syndrome Enzyme Replacement Therapy Gauche Disease Spinal Cord Compression Miglustat 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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REFERENCES

  1. Cox T, Lachmann R, Hollak C, et al (2000) Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355(9214): 1481–1485.PubMedCrossRefGoogle Scholar
  2. Damiano AM, Pastores GM, Ware JE (1998) The health-related quality of life of adults with Gaucher disease receiving enzyme replacement: results from a retrospective study. Qual Life Res 7: 373–386.PubMedCrossRefGoogle Scholar
  3. Grewel RP, Doppelt SH, Thompson MA, Katz D, Brady RO, Barton NW (1991) Neurological complications of non-neuronopathic Gauchers' disease. Arch Neurol 48(12): 1271–1272.Google Scholar
  4. Heitner R, Elstein D, Aerts J, Weely S, Zimran A (2002) Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis 28(2): 127–133.PubMedCrossRefGoogle Scholar
  5. Markin RS, Skultey FM (1984) Spinal cord compression secondary to Gaucher's disease. Surg Neurol 21(4): 341–346.PubMedCrossRefGoogle Scholar
  6. McKeran RO, Bradbury P, Taylor D, Stern G (1985) Neurological involvement of type 1 (adult) Gaucher's disease. J Neurol Neurosurg Psychiatry 48: 172–175.PubMedGoogle Scholar
  7. Perez-Calvo J, Bernal M, Giraldo P, et al (2000) Co-morbidity in Gaucher's disease: results of a nationwide enquiry in Spain. Eaur J Med Res 5(6): 231–235.Google Scholar
  8. Tayebi N, Callahan M, Madike V, et al (2001) Gaucher disease and parkinsonism: a phenotypic and genotypic characterisation. Mol Genet Metab 73(4): 313–321.PubMedCrossRefGoogle Scholar
  9. Varkonyi J, Rosenbaum H, Baumann N, et al (2003) Gaucher disease associated with parkinsonism: four further case reports. Am J Med Genet 116A(4): 348–351.CrossRefGoogle Scholar
  10. Ware JE, Kosinski M, Keller SD (1994) SF-36 Physical and Mental Health Summary Scales: a user's manual. Boston: The Health Institute, New England Medical Center.Google Scholar
  11. Zhao H, Grabowski GA (2002) Gaucher disease: perspectives on a prototype lysosomal disease. Cell Mol Life Sci 59(4): 694–707.PubMedCrossRefGoogle Scholar
  12. Zimran A, Kay A, Gelbart T, et al (1992) Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 71(6): 337-353.CrossRefGoogle Scholar

Copyright information

© Kluwer Academic Publishers 2003

Authors and Affiliations

  • G. M. Pastores
    • 1
  • N. L. Barnett
    • 1
  • P. Bathan
    • 1
  • E. H. Kolodny
    • 1
  1. 1.Neurogenetics Unit, Department of Neurology and PediatricsNew York University School of MedicineNew YorkUSA

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