Entry - 260970 - PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN - OMIM

 
 
260970

PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN


Clinical Synopsis
 

Neuro
- Peripheral neuropathy
- Ataxia
- Focal necrotizing encephalopathy
Lab
- Spongy degeneration of brain
- Axonal defect
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

Appenzeller et al. (1980) described 2 sisters and a brother with this combination of abnormalities, which appears to be unique. Xenografts into immunologically paralyzed mice showed that the Schwann cells from the patient could myelinate regenerating mouse nerves. Thus, the defect presumably resides in the axon.


▼ REFERENCES

  1. Appenzeller, O., Kornfeld, M., Atkinson, R. Pure axonal neuropathy: nerve xenografts and clinicopathological study of a family with peripheral neuropathy, hereditary ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain. Ann. Neurol. 7: 251-261, 1980. [PubMed: 6252824, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
mimadm : 3/11/1994
supermim : 3/17/1992
carol : 3/2/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988

260970

PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN



TEXT

Appenzeller et al. (1980) described 2 sisters and a brother with this combination of abnormalities, which appears to be unique. Xenografts into immunologically paralyzed mice showed that the Schwann cells from the patient could myelinate regenerating mouse nerves. Thus, the defect presumably resides in the axon.


REFERENCES

  1. Appenzeller, O., Kornfeld, M., Atkinson, R. Pure axonal neuropathy: nerve xenografts and clinicopathological study of a family with peripheral neuropathy, hereditary ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain. Ann. Neurol. 7: 251-261, 1980. [PubMed: 6252824] [Full Text: https://doi.org/10.1002/ana.410070308]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
mimadm : 3/11/1994
supermim : 3/17/1992
carol : 3/2/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 8, 2024