Familial “Giant Axonal Neuropathy”

Jones, M. Z.; Nigro, Michael A.; Barre, Peter S.

doi:10.1097/00005072-197905000-00079

Cited by 17 publications

(13 citation statements)

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“…Such a cytoplasmic IF change has been demonstrated in Schwann cells, endothelial, perineurial and endomysial cells, conjunctiva and skin fibroblasts, myenteric plexus neurons and mast cells [6,7,14,17,18,28,31]. Granular electron-dense bodies present in our case are similar to those previously reported by others [17,31].…”

Section: Hairsupporting

confidence: 89%

“…Brain CT scan changes, as in our first case, have also been reported by Fois et al [7], Central nervous system involvement has been re ported by others [11,18,20,23,32], The clinical evolu tion and postmortem findings of the first case [1,2] and that of Koch et al [17], in both of which death occurred at 13 years of age, have recently been reported [18,32]. The findings agree with other autopsy data in GAN showing axon swellings in the spinal cord, brainstem and basal ganglia and the presence of Rosenthal fibers [6,14,27], Similar data have been reported in canine GAN [9,10], Autonomic nervous system involvement has often been reported in this syndrome. In our first case, epi sodes of kidney failure were frequent.…”

Section: Hairsupporting

confidence: 83%

“…Familial cases of GAN suggest that the genetically determined generalized disorder of the filaments is in herited as an autosomal recessive trait [14,20,31 and the present cases]. The presence in our family on the mother's side of 3 cases of ichthyosis without neurologi cal symptoms indicates that incomplete presentation of IF disease could exist in the same family.…”

Section: Hairsupporting

confidence: 48%

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Giant Axonal Neuropathy in 2 Siblings: A Generalized Disorder of Intermediate Filaments

Malandrini

Gerli

et al. 1991

Eur Neurol

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The authors report the clinical details and progress over 15 years of 2 siblings with giant axonal neuropathy with multisystem involvement. Changes in intermediate filaments (IF) were found in myelinated and unmyelinated fiber axons of the peripheral nerve and in Schwann cells, endothelial cells of skin vessels, skin fibro-cytes and melanocytes, confirming a generalized disorder of IF organization.

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Section: Hairsupporting

confidence: 89%

Section: Hairsupporting

confidence: 83%

Section: Hairsupporting

confidence: 48%

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Giant Axonal Neuropathy in 2 Siblings: A Generalized Disorder of Intermediate Filaments

Malandrini

Gerli

et al. 1991

Eur Neurol

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“…A few reports of autopsy neuropathologic examination are available. 11,[11][12][13][14][15][16][17][18][19][20]22 …”

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confidence: 99%

Giant Axonal Neuropathy: Clinical, Electrophysiologic, and Neuropathologic Features in Two Siblings

et al. 1990

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Giant axonal neuropathy is a progressive central-peripheral axonopathy characterized by distention of axons by aggregated neurofilaments. We report two female siblings with giant axonal neuropathy. Both patients developed symptoms of a chronic progressive polyneuropathy at age 3 years. Clinical evidence of central nervous system involvement was present in both cases. Autopsy neuropathologic examination of the older sibling at the age of 11 years revealed numerous giant axons, Rosenthal fibers, and gliosis throughout the brain and spinal cord and typical giant axons in the peripheral nerves. Electrophysiologic studies in the younger sibling indicated brain stem dysfunction, and her sural nerve biopsy revealed enlarged axons packed with neurofilaments. These patients illustrate that neurologic deficits of giant axonal neuropathy result from widespread lesions in the central, as well as peripheral (including autonomic), nervous systems. This occurrence of giant axonal neuropathy in two siblings supports a genetic origin of this disease. This is the first report of autopsy findings in giant axonal neuropathy in an affected sibling.

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“…T h e neurotoxins n-hexane, methyl n-butyl ketone, and acrylamide produce neuropathies characterized by large axonal swellings associated with multifocal aggregates of neurofilaments, the intermediate filaments (8)(9)(10) nm) of the axonal cyt~skeleton.~'*'~ These lesions first appear on the proximal sides of nodes of Ranvier in the distal region of long, large diameter nerve fibers in the peripheral and central nervous systems.23p24…”

mentioning

confidence: 99%

The neurotoxins 2,5‐hexanedione and acrylamide promote aggregation of intermediate filaments in cultured fibroblasts

1983

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Axonal swellings associated with large aggregates of neurofilaments are characteristic of neuropathies caused by chemical neurotoxins (n-hexane, methyl n-butyl ketone, and acrylamide) or giant axonal neuropathy (GAN--an autosomal recessive genetic disease). In GAN, filamentous aggregates have been shown also to occur in other cell types including cultured skin fibroblasts. Therefore, we studied the effects of 2,5-hexanedione (the neurotoxic metabolite of n-hexane and methyl n-butyl ketone) and acrylamide on normal human skin fibroblasts in tissue culture. We show that both neurotoxins induce aggregation of intermediate filaments of the vimentin type in the cultured fibroblasts without disrupting microtubules.

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Familial “Giant Axonal Neuropathy”

Cited by 17 publications

References 0 publications

Giant Axonal Neuropathy in 2 Siblings: A Generalized Disorder of Intermediate Filaments

Giant Axonal Neuropathy in 2 Siblings: A Generalized Disorder of Intermediate Filaments

Giant Axonal Neuropathy: Clinical, Electrophysiologic, and Neuropathologic Features in Two Siblings

The neurotoxins 2,5‐hexanedione and acrylamide promote aggregation of intermediate filaments in cultured fibroblasts

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