Abstract
Giant axonal neuropathy (GAN) is a disorder characterized pathologically by distal neurofilament-filled bulbous swellings in axons, and widespread collection of intermediate filaments, including masses of vimentin filaments in cultured skin fibroblasts. A morphologically similar neurofibrillary disorder is produced by acrylamide and the toxic hexacarbons, agents which bind to thiol groups. We report, in GAN fibroblasts, inhibition of vimentin filament aggregation by dithiothreitol and penicillamine, sulfhydryl donor compounds which stabilize thiols. In addition, we describe clinical improvement in a GAN patient treated with penicillamine, despite earlier progressive disease. These findings support the hypothesis of disordered thiol metabolism in GAN, and open up avenues for further research.
| Original language | English |
|---|---|
| Pages (from-to) | 153-162 |
| Number of pages | 10 |
| Journal | Journal of the Neurological Sciences |
| Volume | 95 |
| Issue number | 2 |
| DOIs | |
| State | Published - Jan 1 1990 |
| Externally published | Yes |
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Keywords
- Dithiothreitol
- Fibroblasts
- Giant axonal neuropathy
- Glutathione
- Penicillamine
- Vimentin filaments
ASJC Scopus subject areas
- Aging
- Clinical Neurology
- Surgery
- Neuroscience(all)
- Developmental Neuroscience
- Neurology
Cite this
Giant axonal neuropathy : studies with sulfhydryl donor compounds. / Tandan, Rup; Bradley, Walter G; Fillyaw, Michael J.
In: Journal of the Neurological Sciences, Vol. 95, No. 2, 01.01.1990, p. 153-162.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Giant axonal neuropathy
T2 - studies with sulfhydryl donor compounds
AU - Tandan, Rup
AU - Bradley, Walter G
AU - Fillyaw, Michael J.
PY - 1990/1/1
Y1 - 1990/1/1
N2 - Giant axonal neuropathy (GAN) is a disorder characterized pathologically by distal neurofilament-filled bulbous swellings in axons, and widespread collection of intermediate filaments, including masses of vimentin filaments in cultured skin fibroblasts. A morphologically similar neurofibrillary disorder is produced by acrylamide and the toxic hexacarbons, agents which bind to thiol groups. We report, in GAN fibroblasts, inhibition of vimentin filament aggregation by dithiothreitol and penicillamine, sulfhydryl donor compounds which stabilize thiols. In addition, we describe clinical improvement in a GAN patient treated with penicillamine, despite earlier progressive disease. These findings support the hypothesis of disordered thiol metabolism in GAN, and open up avenues for further research.
AB - Giant axonal neuropathy (GAN) is a disorder characterized pathologically by distal neurofilament-filled bulbous swellings in axons, and widespread collection of intermediate filaments, including masses of vimentin filaments in cultured skin fibroblasts. A morphologically similar neurofibrillary disorder is produced by acrylamide and the toxic hexacarbons, agents which bind to thiol groups. We report, in GAN fibroblasts, inhibition of vimentin filament aggregation by dithiothreitol and penicillamine, sulfhydryl donor compounds which stabilize thiols. In addition, we describe clinical improvement in a GAN patient treated with penicillamine, despite earlier progressive disease. These findings support the hypothesis of disordered thiol metabolism in GAN, and open up avenues for further research.
KW - Dithiothreitol
KW - Fibroblasts
KW - Giant axonal neuropathy
KW - Glutathione
KW - Penicillamine
KW - Vimentin filaments
UR - http://www.scopus.com/inward/record.url?scp=0025105117&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0025105117&partnerID=8YFLogxK
U2 - 10.1016/0022-510X(90)90238-I
DO - 10.1016/0022-510X(90)90238-I
M3 - Article
C2 - 2324766
AN - SCOPUS:0025105117
VL - 95
SP - 153
EP - 162
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 2
ER -