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Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease

Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease Abstract • A family is described in which adult-onset Gaucher's disease developed, followed years later by atypical psychotic disorders with neurologic and electroencephalographic abnormalities. A biochemical investigation of primary and secondary enzyme alterations in the index case was performed in an attempt to identify a pattern that might be specific to this clinical profile. The literature pertaining to CNS involvement in adult patients with Gaucher's disease is also reviewed. An etiologic link may exist between the inherited metabolic disorder and associated neuropsychiatric impairment. The biochemical basis of this hypothesized association remains unclear, however, and further enzymatic and pathologic investigations are warranted. References 1. Fredrickson DS, Sloan HR: Glucosyl ceramide lipidoses: Gaucher's disease , in Stanburg JB, Wyngarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 3. New York, McGraw-Hill Book Co Inc, 1972, pp 730-759. 2. Peters SP, Glew RH, Lee RE: Gaucher's disease , in Glew RH, Peters SP (eds): Practical Enzymology of the Sphingolipidoses . New York, Liss Publishing Co, 1977, pp 71-100. 3. Glaser GH: Neurologic complications of internal disease , in Baker AB, Baker LH (eds): Clinical Neurology . Hagerstown, Md, Harper & Row Publishers, 1975, vol 3, pp 1-53. 4. Herrlin KM, Hillborg PO: Neurological signs in a juvenile form of Gaucher's disease . Acta Pediatr (Scand) 51:137-154, 1962.Crossref 5. Miller JD, McCluer R, Kanfer JN: Gaucher's disease: Neurologic disorder in adult siblings . Ann Intern Med 78:883-887, 1973.Crossref 6. King JO: Progressive myoclonic epilepsy due to Gaucher's disease in an adult . J Neurol Neurosurg Psychiatry 38:849-854, 1975.Crossref 7. Kolodny EH: General principles and techniques of case identification, carrier testing, and prenatal diagnosis , in Glew RH, Peters SP (eds): Practical Enzymology of the Sphingolipidoses . New York, Liss Publishing Co, 1977, pp 1-38. 8. Melamed E, Cohen C, Soffer D, et al: Central nervous system complication in a patient with chronic Gaucher's disease . Eur Neurol 13:167-175, 1975.Crossref 9. Teilum G: Die Gauchersche Krankheit: Mit der Beschreibung eines Falles der Veränderungen in der Hypophyse und in Hypothalamus zeigte . Acta Med Scand 116:170-190, 1944.Crossref 10. Van Bogaert L, Froehlich A: Un cas de maladie de Gaucher de l'adult avec syndrome de Raynaud, pigmentation, et rigidité du type extrapyramidal aux membres inférieurs . Ann Med 45:57-70, 1939. 11. Davison C: Disturbances of lipid metabolism and the central nervous system . J Mt Sinai Hosp 9:389-406, 1942. 12. Peters SP, Coyle P, Glew RH: Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate . Arch Biochem Biophys 175:569-582, 1976.Crossref 13. Lowry OH, Rosebrough NJ, Farr AL, et al: Protein measurement with the Folin phenol reagent . J Biol Chem 193:265-275, 1951. 14. Erickson JS, Radin NS: N-hexyl-O-glycosyl sphingosine, an inhibitor of glucosyl ceramide β-glucosidase . J Lipid Res 14:133-137, 1973. 15. Miller RR, Peters SP, Kuhlenschmidt MS, et al: The use of ion-exchange resins in the application of protein samples to gel filtration columns . Anal Biochem 72:45-48, 1976.Crossref 16. Peters SP, Lee RE, Glew RH: A microassay for Gaucher's disease . Clin Chim Acta 60:391-396, 1975.Crossref 17. Beutler E, Kuhl W: The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of β-glucosidase activity in peripheral blood leukocytes . J Lab Clin Med 76:747-755, 1970. 18. Glew RH, Peters SP, Christopher AR: Isolation and characterization of β-glucosidase from the cytosol of rat kidney cortex . Biochim Biophys Acta 422:179-199, 1976.Crossref 19. Glew RH, Heath EC: Studies on the extracellular alkaline phosphatase of micrococcus sodonensis . J Biol Chem 246:1556-1565, 1971. 20. Beutler E: Gaucher's disease in an asymptomatic 72-year-old . JAMA 237:2529, 1977.Crossref 21. Brady RO, King FM: Gaucher's disease , in Hers HG, Van Hoof F (eds): Lysosomes and Storage Diseases . New York, Academic Press Inc, 1973, pp 381-394. 22. Klibansky C, Hoffman J, Zaizov R, et al: Chronic Gaucher's disease: Heat resistance of leukocyte glucocerebrosidase in relation to some clinical parameters . Biomedicine 19:345-348, 1973. 23. Matoth Y, Zaizov R, Hoffman J, et al: Clinical and biochemical aspects of chronic Gaucher's disease . Isr J Med Sci 10:1523-1529, 1974. 24. Peters SP, Coffee CJ, Glew RH, et al: Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease . Arch Biochem Biophys 183:290-297, 1977.Crossref 25. Kanfer JN, Raghavan SS, Mumford RA, et al: Deficiency of steroid beta-glucosidase in Gaucher's disease . Biochem Biophys Res Commun 67:683-688, 1975.Crossref 26. Ockerman PA: Identity of β-glucosidase, β-xylosidase and one of the β-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-β-D-glycosides studies in cases of Gaucher's disease . Biochim Biophys Acta 165:59-62, 1968.Crossref 27. Hultberg B, Ockerman PA: Beta-glucosidase activities in human tissues: Findings in Gaucher's disease . Clin Chim Acta 28:169-174, 1970.Crossref 28. Ockerman PA, Köhlin P: Tissue acid hydrolase activities in Gaucher's disease . Scand J Clin Lab Invest 22:62-64, 1968.Crossref 29. Ockerman PA, Köhlin P: Acid hydrolases in plasma in Gaucher's disease . Clin Chem 15:61-64, 1969. 30. Verity MA, Montasir M: Infantile Gaucher's disease: Neuropathology, acid hydrolase activities and negative staining observations . Neuropaediatrie 8:89-100, 1977.Crossref 31. French JH, Brotz M, Poser CM: Lipid composition of the brain in infantile Gaucher's disease . Neurology 19:81-86, 1969.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease

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Publisher
American Medical Association
Copyright
Copyright © 1979 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1979.00500380065007
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Abstract

Abstract • A family is described in which adult-onset Gaucher's disease developed, followed years later by atypical psychotic disorders with neurologic and electroencephalographic abnormalities. A biochemical investigation of primary and secondary enzyme alterations in the index case was performed in an attempt to identify a pattern that might be specific to this clinical profile. The literature pertaining to CNS involvement in adult patients with Gaucher's disease is also reviewed. An etiologic link may exist between the inherited metabolic disorder and associated neuropsychiatric impairment. The biochemical basis of this hypothesized association remains unclear, however, and further enzymatic and pathologic investigations are warranted. References 1. Fredrickson DS, Sloan HR: Glucosyl ceramide lipidoses: Gaucher's disease , in Stanburg JB, Wyngarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 3. New York, McGraw-Hill Book Co Inc, 1972, pp 730-759. 2. Peters SP, Glew RH, Lee RE: Gaucher's disease , in Glew RH, Peters SP (eds): Practical Enzymology of the Sphingolipidoses . New York, Liss Publishing Co, 1977, pp 71-100. 3. Glaser GH: Neurologic complications of internal disease , in Baker AB, Baker LH (eds): Clinical Neurology . Hagerstown, Md, Harper & Row Publishers, 1975, vol 3, pp 1-53. 4. Herrlin KM, Hillborg PO: Neurological signs in a juvenile form of Gaucher's disease . Acta Pediatr (Scand) 51:137-154, 1962.Crossref 5. Miller JD, McCluer R, Kanfer JN: Gaucher's disease: Neurologic disorder in adult siblings . Ann Intern Med 78:883-887, 1973.Crossref 6. King JO: Progressive myoclonic epilepsy due to Gaucher's disease in an adult . J Neurol Neurosurg Psychiatry 38:849-854, 1975.Crossref 7. Kolodny EH: General principles and techniques of case identification, carrier testing, and prenatal diagnosis , in Glew RH, Peters SP (eds): Practical Enzymology of the Sphingolipidoses . New York, Liss Publishing Co, 1977, pp 1-38. 8. Melamed E, Cohen C, Soffer D, et al: Central nervous system complication in a patient with chronic Gaucher's disease . Eur Neurol 13:167-175, 1975.Crossref 9. Teilum G: Die Gauchersche Krankheit: Mit der Beschreibung eines Falles der Veränderungen in der Hypophyse und in Hypothalamus zeigte . Acta Med Scand 116:170-190, 1944.Crossref 10. Van Bogaert L, Froehlich A: Un cas de maladie de Gaucher de l'adult avec syndrome de Raynaud, pigmentation, et rigidité du type extrapyramidal aux membres inférieurs . Ann Med 45:57-70, 1939. 11. Davison C: Disturbances of lipid metabolism and the central nervous system . J Mt Sinai Hosp 9:389-406, 1942. 12. Peters SP, Coyle P, Glew RH: Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate . Arch Biochem Biophys 175:569-582, 1976.Crossref 13. Lowry OH, Rosebrough NJ, Farr AL, et al: Protein measurement with the Folin phenol reagent . J Biol Chem 193:265-275, 1951. 14. Erickson JS, Radin NS: N-hexyl-O-glycosyl sphingosine, an inhibitor of glucosyl ceramide β-glucosidase . J Lipid Res 14:133-137, 1973. 15. Miller RR, Peters SP, Kuhlenschmidt MS, et al: The use of ion-exchange resins in the application of protein samples to gel filtration columns . Anal Biochem 72:45-48, 1976.Crossref 16. Peters SP, Lee RE, Glew RH: A microassay for Gaucher's disease . Clin Chim Acta 60:391-396, 1975.Crossref 17. Beutler E, Kuhl W: The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of β-glucosidase activity in peripheral blood leukocytes . J Lab Clin Med 76:747-755, 1970. 18. Glew RH, Peters SP, Christopher AR: Isolation and characterization of β-glucosidase from the cytosol of rat kidney cortex . Biochim Biophys Acta 422:179-199, 1976.Crossref 19. Glew RH, Heath EC: Studies on the extracellular alkaline phosphatase of micrococcus sodonensis . J Biol Chem 246:1556-1565, 1971. 20. Beutler E: Gaucher's disease in an asymptomatic 72-year-old . JAMA 237:2529, 1977.Crossref 21. Brady RO, King FM: Gaucher's disease , in Hers HG, Van Hoof F (eds): Lysosomes and Storage Diseases . New York, Academic Press Inc, 1973, pp 381-394. 22. Klibansky C, Hoffman J, Zaizov R, et al: Chronic Gaucher's disease: Heat resistance of leukocyte glucocerebrosidase in relation to some clinical parameters . Biomedicine 19:345-348, 1973. 23. Matoth Y, Zaizov R, Hoffman J, et al: Clinical and biochemical aspects of chronic Gaucher's disease . Isr J Med Sci 10:1523-1529, 1974. 24. Peters SP, Coffee CJ, Glew RH, et al: Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease . Arch Biochem Biophys 183:290-297, 1977.Crossref 25. Kanfer JN, Raghavan SS, Mumford RA, et al: Deficiency of steroid beta-glucosidase in Gaucher's disease . Biochem Biophys Res Commun 67:683-688, 1975.Crossref 26. Ockerman PA: Identity of β-glucosidase, β-xylosidase and one of the β-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-β-D-glycosides studies in cases of Gaucher's disease . Biochim Biophys Acta 165:59-62, 1968.Crossref 27. Hultberg B, Ockerman PA: Beta-glucosidase activities in human tissues: Findings in Gaucher's disease . Clin Chim Acta 28:169-174, 1970.Crossref 28. Ockerman PA, Köhlin P: Tissue acid hydrolase activities in Gaucher's disease . Scand J Clin Lab Invest 22:62-64, 1968.Crossref 29. Ockerman PA, Köhlin P: Acid hydrolases in plasma in Gaucher's disease . Clin Chem 15:61-64, 1969. 30. Verity MA, Montasir M: Infantile Gaucher's disease: Neuropathology, acid hydrolase activities and negative staining observations . Neuropaediatrie 8:89-100, 1977.Crossref 31. French JH, Brotz M, Poser CM: Lipid composition of the brain in infantile Gaucher's disease . Neurology 19:81-86, 1969.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Feb 1, 1979

References