We analyzed a sural nerve biopsy of a child with congenital hypomyelinating neuropathy. A lack of normally myelinated fibres, abnormal architecture of premyelin fibres and basal lamina onion bulbs were identified. The most prominent pathological finding was the appearance of significant death of Schwann cells with apoptotic morphology. This new finding may suggest that abnormal premyelin fibres are susceptible to death and that their disappearance is responsible for empty basal lamina onion bulb formation.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Brain and Development
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Cell death during development of the nervous system.Ann Rev Neurosci. 1991; 14: 453-501
- Apoptosis regulates the number of Schwann cells at the premyelin stage.J Neurochem. 1997; 68: 1853-1862
- Krox-20 controls SCIP expression, cell cycle exit and susceptibility to apoptosis in developing myelinating Schwann cells.Development. 1999; 126: 1397-1406
- Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita.Neurology. 1988; 38: 966-974
- A case of congenital hypomyelination neuropathy. Clinical, morphological and chemical studies.Arch Neurol. 1977; 34: 337-345
- Social controls of cell survival and cell death.Nature. 1992; 356: 394-400
- Cell death: the significance of apoptosis.Int Rev Cytol. 1980; 68: 251-306
- Schwann cell differentiation.Curr Opin Cell Biol. 1996; 8: 870-876
- Krox-20 controls myelination in the peripheral nervous system.Nature. 1994; 371: 796-799
- Schwann cell development, differentiation and myelination.Curr Opin Neurobiol. 1996; 6: 89-96
- Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.Neurology. 1999; 52: 1827-1832
Accepted: May 29, 2002
Received in revised form: May 7, 2002
Received: July 4, 2001
© 2002 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.