Journal article
Giant axonal neuropathy: normal protein composition of neurofilaments
Journal of neurology, neurosurgery and psychiatry, Vol.46(6), pp.551-554
06/01/1983
DOI: 10.1136/jnnp.46.6.551
PMCID: PMC1027447
PMID: 6410005
Abstract
A 14-year-old boy had progressive weakness and ataxia since two years of age with tightly curled hair, facial diplegia, distal weakness and hypaesthesia, cerebellar syndrome and normal intelligence. He also had distal renal tubular acidosis manifested by metabolic acidosis. Sural nerve ultrastructure showed numerous giant axons packed with neurofilaments. The neurofilament major proteins of 68 000, 160 000 and 210 000 daltons found in normal sural nerve were also present in the diseased nerve indicating that the protein composition of neurofilaments which accumulates in this disorder has not been appreciably altered. The amount of 68 000 dalton neurofilament protein was two times higher in giant axonal neuropathy nerve than in the control nerve. Our results suggest that the neurofibrillary pathology in giant axonal neuropathy is due to a build-up of normal neurofilaments.
Details
- Title: Subtitle
- Giant axonal neuropathy: normal protein composition of neurofilaments
- Creators
- V IonasescuC SearbyP RubensteinA SandraP CancillaJ Robillard
- Resource Type
- Journal article
- Publication Details
- Journal of neurology, neurosurgery and psychiatry, Vol.46(6), pp.551-554
- DOI
- 10.1136/jnnp.46.6.551
- PMID
- 6410005
- PMCID
- PMC1027447
- NLM abbreviation
- J Neurol Neurosurg Psychiatry
- ISSN
- 0022-3050
- eISSN
- 1468-330X
- Language
- English
- Date published
- 06/01/1983
- Academic Unit
- Molecular Physiology and Biophysics; Nephrology, Dialysis and Transplantation; Stead Family Department of Pediatrics; Biochemistry and Molecular Biology; Medicine Administration; Internal Medicine
- Record Identifier
- 9984293088502771
Metrics
48 Record Views