Neurovisceral Lipidosis Compatible with Niemann-Pick Disease Type C: Morphological and Biochemical Studies of a Late Infantile Case and Enzyme and Lipid Assays in a Prenatal Case of the Same Family

Overview

Journal Acta Neuropathol

Specialty Neurology

Date 1978 Aug 7

PMID 209660

Citations 21

Authors

K Harzer

W Schlote

J PEIFFER

H U Benz

A P Anzil

Affiliations

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Citing Articles

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Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions.

Demais V, Barthelemy A, Perraut M, Ungerer N, Keime C, Reibel S J Neurosci. 2016; 36(30):8012-25.

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The neuropsychiatry of inborn errors of metabolism.

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Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.

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Secondary lipid accumulation in lysosomal disease.

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References

Anzil A, BLINZINGER K, Mehraein P, Dozic S . Niemann-Pick disease type C: case report with ultrastructural findings. Neuropadiatrie. 1973; 4(2):207-25. DOI: 10.1055/s-0028-1091741. View

Karpati G, Carpenter S, Wolfe L, Andermann F . Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease. Neurology. 1977; 27(1):32-42. DOI: 10.1212/wnl.27.1.32. View

Kampine J, Brady R, Kanfer J, Feld M, Shapiro D . Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. Science. 1967; 155(3758):86-8. DOI: 10.1126/science.155.3758.86. View

Elleder M, Jirasek A, Smid F . Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process. Acta Neuropathol. 1975; 33(3):191-200. DOI: 10.1007/BF00688393. View

WIEDEMANN H, DEBUCH H, Lennert K, Caesar R, BLUMCKE S, Harms D . [An infantile-juvenile, subchronically progressive lipoidosis of the sphingomyelinoses (Niemann-Pick) form--a new type? Clinical, pathohistological, electron microscopic and biochemical studies]. Z Kinderheilkd. 1972; 112(3):187-225. View

Harzer K, Benz H . Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C. J Neurochem. 1973; 21(4):999-1001. DOI: 10.1111/j.1471-4159.1973.tb07545.x. View

Harzer K, Anzil A, Schuster I . Resolution of tissue sphingomyelinase isoelectric profile in multiple components is extraction-dependent: evidence for a component defect in Niemann-Pick disease type C is spurious. J Neurochem. 1977; 29(6):1155-7. DOI: 10.1111/j.1471-4159.1977.tb06525.x. View

Wenger D, BARTH G, GITHENS J . Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes. Am J Dis Child. 1977; 131(9):955-61. DOI: 10.1001/archpedi.1977.02120220021002. View

Seng P, DEBUCH H, Witter B, WIEDEMANN H . [Augmentation of bis(monoacylglycerin)phosphric acid in sphingomyelinosis (M. Niemann-Pick?)]. Hoppe Seylers Z Physiol Chem. 1971; 352(2):280-8. DOI: 10.1515/bchm2.1971.352.1.280. View

10.

Philippart M, Martin L, Martin J, MENKES J . Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C). Arch Neurol. 1969; 20(3):227-38. DOI: 10.1001/archneur.1969.00480090015001. View

11.

Callahan J, Khalil M, Philippart M . Sphingomyelinases in human tissues. II. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, type C. Pediatr Res. 1975; 9(12):908-13. DOI: 10.1203/00006450-197512000-00009. View

12.

Pellissier J, Hassoun J, Gambarelli D, Bryon P, Casanova P, TOGA M . [Niemann-Pick disease (Crocker's type C): ultrastructural study of a case (author's transl)]. Acta Neuropathol. 1976; 34(1):65-76. DOI: 10.1007/BF00684945. View

13.

Crocker A . The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J Neurochem. 1961; 7:69-80. DOI: 10.1111/j.1471-4159.1961.tb13499.x. View

14.

dAcremont G, Kint J, Carton D, Cocquyt G . Glucosylceramide in plasma of patients with Niemann-Pick disease. Clin Chim Acta. 1974; 52(3):365-7. DOI: 10.1016/0009-8981(74)90124-7. View

15.

Lowden J, LaRamee M, Wentworth P . The subacute form of Niemann-Pick disease. Arch Neurol. 1967; 17(3):230-7. DOI: 10.1001/archneur.1967.00470270008002. View

16.

Callahan J, Khalil M, GERRIE J . Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C. Biochem Biophys Res Commun. 1974; 58(2):385-90. DOI: 10.1016/0006-291x(74)90376-3. View

17.

LOWRY O, ROSEBROUGH N, FARR A, RANDALL R . Protein measurement with the Folin phenol reagent. J Biol Chem. 1951; 193(1):265-75. View

18.

NORMAN R, FORRESTER R, Tingey A . The juvenile form of Niemann-Pick disease. Arch Dis Child. 1967; 42(221):91-6. PMC: 2019666. DOI: 10.1136/adc.42.221.91. View

19.

Baraton G, Revol A . [Activators for sphingohydrolases and the nature of the sphingomyelinase deficiency in Niemann-Pick disease types A, B and C (author's transl)]. Clin Chim Acta. 1977; 76(3):339-43. DOI: 10.1016/0009-8981(77)90160-7. View

20.

Brady R, Kanfer J, MOCK M, Fredrickson D . The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc Natl Acad Sci U S A. 1966; 55(2):366-9. PMC: 224150. DOI: 10.1073/pnas.55.2.366. View