Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears

Brain and Nerve

Volumn 56, Issue 12, 2004, Pages 1047-1053

  Wakida, Kenji ^a   Matsuyama, Zenjiro ^a   Suzuki, Yasuyuki ^a   Sawada, Michio ^a   Tsurumi, Hisashi ^a   Kimura, Akio ^a   Hayashi, Yuichi ^a   Hashizume, Tatsuma ^a   Hozumi, Isao ^a   Inuzuka, Takashi ^a  

^a GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Adult Niemann Pick disease; Dementia; Filipin staining; Startle response; Type C; Vertical supranuclear ophthalmoplegia (VSO)

Indexed keywords

CHOLESTEROL; FILIPIN;

ADULT; ARTICLE; BONE MARROW BIOPSY; BRAIN ATROPHY; CASE REPORT; CEREBELLAR ATAXIA; CHOLESTEROL ESTERIFICATION; CHOLESTEROL METABOLISM; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CYTODIAGNOSIS; DEMENTIA; DYSARTHRIA; DYSTONIA; FOAM CELL; HEPATOMEGALY; HUMAN; HYPERREFLEXIA; INVOLUNTARY MOVEMENT; MALE; MOTOR DYSFUNCTION; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPHTHALMOPLEGIA; PATHOLOGICAL REFLEX; SIBLING; SKIN BIOPSY; SKIN FIBROBLAST; SPLENOMEGALY; STAINING; STARTLE REFLEX;

ADOLESCENT; ADULT; BONE MARROW CELLS; BRAIN; FAMILY HEALTH; FILIPIN; FOAM CELLS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NIEMANN-PICK DISEASES; STAINING AND LABELING;

EID: 20044394169     PISSN: 00068969     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Vanier MT, Suzuki K: Niemann-Pick diseases. Neurodystrophies and Neurolipidoses 22:133-162, 1996
2. Josephs KA, Van Gerpen MW, Van Gerpen JA: Adult onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry 74:528-529, 2003
3. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zang D, Cummings C, Jessie G, Rosefeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Loannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang T, Liscum L, Staruss JF, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, Raymond R, Diggelen OP, Elleder DM, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA: Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science 277:228-231, 1997
4. Vanier MT, Salvayre R: Pathophysiological approach of Niemann-Pick disease type C: In: Lipid Storage Disease: Definition of a Biochemical Heterogeneity and Reevaluation of the Lipid Storage Process, Plenum, New York, 1988, pp 175-185
5. Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Vanier MT, Morris JA, Pentchev PG, Ohno K: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet 105:10-16, 1999
6. Vanier MT, Pentchev P, Rodriguez-Lafrasse C, Rousson R: Niemann-Pick disease type C: An update. J Inherit Metab Dis 14:580-595, 1991
7. Shulman LM, David NJ, Weiner WJ: Psychosis as the initial manifestation of adult-onset Niemann-Pick disease type C. Neurology 45:1739-1743, 1995
8. Tohyama J, Kato M, Ohno K: Type C Niemann-Pick disease. Detection and quantification of cholesterol-accumulating cells in bone marrow. Brain Dev 15:316-317, 1993
9. Fink JK, Filling-Katz MR, Sokal J, Cogan DG, Pikus A, Sonies B, Soong B, Pentchev PG, Comly ME, Brady RO, Barton NW: Clinical spectrum of Niemann-Pick disease type C. Neurology 39:1040-1049, 1989
10. Wherrett JR, Rewcastle NB: Adult neurovisceral lipidosis. Clin Res 17:665, 1969
11. Longstreth WT, Daven JR, Farrell DF, Bolen JW, Bird TD: Adult dystonic lipidosis: Clinical, histologic, and biochemical findings of a neurovisceral storage disease. Neurology 32:1295-1299, 1982
12. Elleder M, Jirasek A, VIk J: Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C. Virchows Arch 401:35-43, 1983
13. Yan-Go FL, Yanagihara T, Pierre RV, Goldstein NP: A progressive neurologic disorder with supranuclear vertical gaze paresis and distinctive bone marrow cells. Mayo Clin Proc 59:404-410, 1984
14. Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG: Niemann-Pick disease group C: Clinical variability and diagnosis based on defective cholesterol esterification. Clin Genet 33:331-348, 1988
15. Vanier MT, Rodriguez-Lafrasse C, Rousson R, Dutchel S, Harzer K, Pentchev PG, Revol A, Louisot P: Type C Niemann-Pick disease: Biochemical aspects and phenotypic heterogeneity. Dev Neurosci 13:307-314, 1991
16. Hulette CM, Earl ML, Anthony DC, Crain BJ: Adult onset Niemann-Pick disease type C presenting with dementia and absent organomegaly. Clin Neuropathol 11:293-297, 1992
17. Lanska DJ, Lanska MJ: Niemann-Pick disease type C in a middle-aged woman. Neurology 43:1435-1436, 1993
18. Schneck L, Maisel J, Volk BW: The startle response and serum enzyme profile in early detection of Tay-Sachs' disease. J Pediatr 65:749-756, 1964
19. Griffin LD, Gong W, Verot L, Mellon SH: Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone. Nat Med 10: 704-711, 2004
20. Lossos A, Schlesinger I, Okon E, Abramsky O, Bargal R, Vanier MT, Zeigler M: Adult-onset Niemann-Pick type C disease: Clinical, biochemical, and genetic study. Arch Neurol 54:1536-1541, 1997