Inherited Neuroaxonal Dystrophy in C6 Deficient Rabbits
Abstract
We report the occurrence of a progressive neurological syndrome clinically characterized by subacute motor neuropathy in offspring of C6 deficient rabbits. On the basis of the pedigree analysis, the disease appears to be genetically transmitted, most probably with an autosomal recessive mode of inheritance. Pathological studies of affected animals revealed: transmitted, most probably with an autosomal recessive mode of inheritance. Pathological studies of affected animals revealed: 1) severe axonal degeneration in the sciatic nerve system involving mainly motor fibers; 2) occasional peripheral axonal enlargement closely associated with axonal degeneration; 3) presence of structured abnormal material in normal-size myelinated fibers of central nervous system (CNS) and peripheral nervous system (PNS); and 4) widespread occurrence of dystrophic axons and axonal spheroids in the gray matter of CNS. By ultrastructural examination, dystrophic axons are filled with tubulovesicular material, stalks of parallel membranes and dense bodies similar to what is described in human neuroaxonal dystrophies (NAD). The disease manifested by C6 deficient rabbits may represent an animal model of primary human NAD.
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Deficiency in complement factor 6 in small mammals causes a progressive neurological syndrome characterized by multifocal motor neuropathy and severe axonal degeneration.
“Deficiency in this component in small mammals has been shown to cause a progressive neurological syndrome characterized by multifocal motor neuropathy and severe axonal degeneration [44].”
From Early onset senescence and cognitive impairment in a murine model of repeated mTBI (2021) · cites this paper as [44]
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Biology and Diseases of Rabbits
Nowland, M. H., Brammer, D. W., García, A., & Rush, H. G. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-409527-4.00010-9 · Cited by 103 · see citing works
“The disease manifested by C6-deficient rabbits may represent an animal model of primary human NAD (Giannini et al., 1992).”
BackgroundEarly onset senescence and cognitive impairment in a murine model of repeated mTBI
Schwab, N., Ju, Y., & Hazrati, L.-N. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01190-x · Cited by 39 · see citing works
“Deficiency in this component in small mammals has been shown to cause a progressive neurological syndrome characterized by multifocal motor neuropathy and severe axonal degeneration [44].”
BackgroundGenetically Determined Neuropathies
Bilbao, J. M., & Schmidt, R. E. (2014) · Springer eBooks · doi:10.1007/978-3-319-07311-8_19 · Cited by 6 · see citing works
Genetically Determined Neuropathies
Midroni, G., & Bilbao, J. M. (1995) · Elsevier eBooks · doi:10.1016/b978-0-7506-9552-7.50024-7 · Cited by 2 · see citing works
(1995) · Elsevier eBooks · doi:10.1016/b978-012165250-0/50023-4
Sekiguchi, T., Tanaka, M., Fujikawa, R., Kuramoto, T., Izawa, T., & Kuwamura, M. (2026) · Veterinary Pathology · doi:10.1177/03009858261428505
“12,15,17,18,21,34,51 A variant of the pantothenate kinase 2 gene has also been identified in another human NAD, referred to as pantothenate kinase-associated neurodegeneration.”
- Authors
- Giannini, C., Monaco, S., Kirschfink, M., Rother, K. O., de Ruiz, H. L., Nardelli, E., Bonetti, B., Salviati, A., Zanette, G. P., & Rizzuto, N.
- Affiliations
- University of Verona (IT)
- Heidelberg University (DE)
- Corresponding author
- Monaco, S
- Venue
- Journal of Neuropathology and Experimental Neurology
- Publisher
- Oxford University Press (OUP)
- Published
- 1992-09
- Volume
- 51
- Issue
- 5
- Pages
- 514-522
- ISSN
- 0022-3069 (ISSN-L)
- OpenAlex
- W2004611898
- Cited by
- 6
- References
- 0
- Citations by year
- 2026: 1 · 2021: 1 · 2015: 1 · 2014: 1
- FWCI
- 0.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Neuropathology & Experimental Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- neuroaxonal dystrophy, C6 deficiency, rabbit model, autosomal recessive inheritance, axonal degeneration, sciatic nerve, axonal swellings, dystrophic axons, ultrastructure
- MeSH terms
- Animals, Axons, Central Nervous System, Complement C6, Electrophysiology, Female, Male, Microscopy, Electron, Motor Neurons, Nerve Degeneration, Nervous System Diseases, Pedigree, Peripheral Nerves, Rabbits
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