PMID: 6410005Jun 1, 1983Paper

Giant axonal neuropathy: normal protein composition of neurofilaments

Journal of Neurology, Neurosurgery, and Psychiatry
V IonasescuJ Robillard

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.

References

Jul 1, 1976·Journal of Neuropathology and Experimental Neurology·J W PrineasJ G McLeod
Mar 31, 1977·Acta Neuropathologica·H Jedrzejowska, H Drac
May 1, 1977·Annals of Neurology·T KochP Lampert
Feb 1, 1979·Neuropädiatrie·A LarbrisseauG Geoffroy
Nov 26, 1977·The Veterinary Record·I D Duncan, I R Griffiths
Mar 1, 1976·Proceedings of the Society for Experimental Biology and Medicine·E J ZambraskiG J Kaloyanides
Mar 1, 1974·The Journal of Clinical Investigation·M L HalperinB J Stinebaugh
Jan 1, 1972·Acta Neuropathologica·A K AsburyB O Berg
May 1, 1981·Muscle & Nerve·I D DuncanS Henderson
Nov 1, 1981·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·J M DooleyE G Murphy

❮ Previous
Next ❯

Citations

Jan 1, 1992·Acta Neuropathologica·M SabatelliP Tonali
Jan 1, 1987·Acta Neuropathologica·H A KretzschmarR L Davis
Apr 1, 1988·Journal of Neurocytology·M DonaghyJ M Workman
Dec 1, 1987·Journal of the Neurological Sciences·R TandanW G Bradley
Feb 1, 1990·Journal of the Neurological Sciences·R TandanM J Fillyaw
Oct 29, 2000·Neuromuscular Disorders : NMD·R ZemmouriM Tazir
Jun 1, 1991·Anaesthesia·A Mitchell, P E Moskovits
Apr 14, 2011·Molecular Neurodegeneration·Thibault GanayPascale Bomont
Feb 5, 1998·Annals of Neurology·K M FlaniganL J Ptácek
Jun 21, 2014·Muscle & Nerve·Bethany L Johnson-KernerDouglas M Sproule
May 1, 1995·Journal of Child Neurology·W H HoffmanD R Kelly
Jul 1, 1988·Journal of Neurology, Neurosurgery, and Psychiatry·M DonaghyP K Thomas

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.