Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A

Acta Neuropathologica

Volumn 92, Issue 5, 1996, Pages 454-460

  Nishimura, Tomoya ^a   Yoshikawa, Hiroo ^a   Fujimura, Harutoshi ^a   Sakoda, Saburo ^a   Yanagihara, Takehiko ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

CMT1A; Immunohistochemistry; Onion bulb formation; PMP 22

Indexed keywords

BETA ACTIN; MESSENGER RNA; MYELIN BASIC PROTEIN; MYELIN PROTEIN; PROTEIN S 100;

ADOLESCENT; ADULT; AGED; ARTICLE; BIOACCUMULATION; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; DEMYELINATING NEUROPATHY; FEMALE; GENE DOSAGE; GENE DUPLICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MESSENGER RNA SYNTHESIS; MYELIN SHEATH; NERVE BIOPSY; NORTHERN BLOTTING; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SCHWANN CELL;

ADOLESCENT; ADULT; AGED; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MYELIN PROTEINS; SCHWANN CELLS;

EID: 0029908245     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050546     Document Type: Article

References (19)

1. Chou SM (1992) Immunohistochemical and ultrastructural classification of peripheral neuropathies with onion-bulbs. Clin Neuropathol 11: 109-114
2. Dyck PJ (1969) Experimental hypertrophic neuropathy: pathogenesis of onion-bulb formations produced by repeated tourniquet applications. Arch Neurol 21: 73-95
3. Dyck PJ, Chance PF, Lebo R, Carney JA (1993) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, et al (eds) Peripheral neuropathy, 3rd ed. Saunders, Philadelphia, pp 1094-1136
4. Dyck PJ, Giannini C, Lais A (1993) Pathologic alterations of nerves. In: Dyck PJ, Thomas PK, Griffin JW, et al (eds) Peripheral neuropathy, 3rd edn. Saunders, Philadelphia, pp 514-595
5. Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin JJ, Van Broeckhoven C, Mancardi GL, Bartke I, Müller HW (1994) Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type la sural nerve biopsies. J Neurosci Res 37: 654-659
6. Himoro M, Yoshikawa H, Matsui T, Mitsui Y, Takahashi M, Kaido M, Nishimura T, Sawaishi Y, Takada G, Hayasaka K (1993) New mutation of the myelin P0 gene in pedigree of Charcot-Marie-Tooth neuropathy type 1. Biochem Mol Biol Int 31: 169-173
7. Johnson PC (1991) Peripheral nerve. In: Davis RL, Robertson DM (eds) Textbook of neuropathology, 2nd edn. Williams and Wilkins, Baltimore, pp 1004-1087
8. Lupski JR, Garcia CA (1992) Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol 2: 337-349
9. Manfioletti G, Ruaro ME, Del Sal G, Philipson L, Schneider C (1990) A growth arrest-specific (gas) gene codes for a membrane protein. Mol Cell Biol 10: 2924-2930.
10. Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertson H, Hanemann CO, Müller H W, Bird TD, White R, Chance PF (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1: 176-179
11. Nishimura T, Yoshikawa H, Sakoda S, Yanagihara T (1995) Immunohistochemical study of peripheral myelin protein 22 on biopsied nerves of patients with Charcot-Marie-Tooth disease type 1A. (abstract) Ann Neurol 38: 334
12. Palel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snips GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1: 159-165
13. Roa BB, Lupski JR (1993) Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. Am J Med Sci 306: 177-184.
14. Snipes GJ, Suter U, Welcher AA, Shooter EM (1992) Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol 117: 225-238
15. Snipes GJ, Suter U, Shooter EM (1993) Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope. J Neurochem 61: 1961-1964
16. Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Ben Othman K, Cullen B, Leachz RJ, Hanemann CO, Dejonghe P, Raeymaekers P, van Ommen G-JB, Martin JJ, Müller HW, Vance JM, Fischbeck KH, Van Broeckhoven C (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1: 171-175
17. Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP Jr, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, van Ommen G-JB, Bass F (1992) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1: 166-170
18. Yoshikawa H, Nishimura T, Nakatsuji Y, Fujimura H, Himoro M, Hayasaka K, Sakoda S, Yanagihara T (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol 35: 445-450
19. Zoidl G, Blass-Kampmann S, D'Urso D, Schmalenbach C, Müller HW (1995) Retroviral-mediated gene transfer of the peripheral protein PMP-22 in Schwann cells: modulation of cell growth. EMBO J 14: 1122-1128