scholarly journals The Neuropathy of Charlevoix-Saguenay Ataxia: An Electrophysiological and Pathological Study

1979 ◽  
Vol 6 (2) ◽  
pp. 199-203 ◽  
Author(s):  
J.M. Peyronnard ◽  
L. Charron ◽  
A. Barbeau
Keyword(s):  
Action Potentials ◽  
Friedreich’S Ataxia ◽  
Nerve Fibers ◽  
Friedreich's Ataxia ◽  
Myelinated Fiber ◽  
Fiber Density ◽  
Primary Defect ◽  
Internodal Length ◽  
Sensory Action ◽  
Upper And Lower Extremities

SummaryTwo female patients aged 30 and 40 years with the Charlevoix-Saguenay ataxia were studied. Both had absent sensory action potentials in upper and lower extremities but, unlike typical cases of Friedreich's ataxia, they displayed a marked slowing of motor conduction velocities. Sural nerve biopsies taken from calf and ankle revealed a severe loss of large my elina ted axons contrasting with a normal myelinated fiber density. Evidence for active axonal degeneration was scarce, with no indication of axonal regeneration.Teased myelinated fibers revealed an increased variability of internodal length but no evidence for myelin breakdown. These findings support, as a primary defect, a developmental abnormality of peripheral nerve, namely a lack of maturation of large myelinated axons and possibly a faulty myelination of nerve fibers. We think it is unlikely to represent a progressive axonal atrophie or dystrophic process, as suggested in Friedreich's ataxia.

scholarly journals Nerve Conduction Studies and Electromyography in Friedreich's Ataxia

1976 ◽  
Vol 3 (4) ◽  
pp. 313-317 ◽  
Author(s):  
J.M. Peyronnard ◽  
L. Lapointe ◽  
J.P. Bouchard ◽  
A. Lamontagne ◽  
B. Lemieux ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Nerve Conduction ◽  
Action Potentials ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Nerve Conduction Studies ◽  
Standard Protocol ◽  
Conduction Velocities ◽  
Sensory Action ◽  
Almost All

SUMMARY:Twenty-six of 50 patients were investigated with nerve conduction studies and electromyography using a standard protocol and were compared to the findings in 50 normal control subjects. Almost all cases of typical Friedreich's ataxia had absent sensory action potentials (SAP) in the digital (92%) or sural (96%) nerves. The others had markedly decreased S.A.P's. In these same patients motor conduction auvelocities were either normal or only slightly decreased. In the second, atypical group of 9 patients, the motor conduction velocities were considerably decreased.Because of the absence of sensory action potentials in Friedreich's ataxia, and that the absence was noted in our very mild cases, it is proposed that this measure be used to facilitate early diagnosis.

scholarly journals Intraepidermal Nerve Fiber Density in Friedreich’s Ataxia

2018 ◽  
Vol 77 (12) ◽  
pp. 1137-1143 ◽  
Author(s):  
Elisabetta Indelicato ◽  
Wolfgang Nachbauer ◽  
Andreas Eigentler ◽  
Dagmar Rudzki ◽  
Julia Wanschitz ◽  
...  
Keyword(s):  
Nerve Fiber ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Fiber Density ◽  
Intraepidermal Nerve Fiber Density ◽  
Nerve Fiber Density ◽  
Intraepidermal Nerve Fiber

scholarly journals Targeting NRF2 for the Treatment of Friedreich’s Ataxia: A Comparison among Drugs

2019 ◽  
Vol 20 (20) ◽  
pp. 5211 ◽  
Author(s):  
Sara Petrillo ◽  
Jessica D’Amico ◽  
Piergiorgio La Rosa ◽  
Enrico Silvio Bertini ◽  
Fiorella Piemonte
Keyword(s):  
Dimethyl Fumarate ◽  
Friedreich’S Ataxia ◽  
Nerve Fibers ◽  
Friedreich's Ataxia ◽  
Related Factor ◽  
Iron Sulfur Cluster ◽  
Redox Active ◽  
Nrf2 Activation ◽  
Clinical Benefits ◽  
Skin Biopsies

NRF2 (Nuclear factor Erythroid 2-related Factor 2) signaling is impaired in Friedreich’s Ataxia (FRDA), an autosomal recessive disease characterized by progressive nervous system damage and degeneration of nerve fibers in the spinal cord and peripheral nerves. The loss of frataxin in patients results in iron sulfur cluster deficiency and iron accumulation in the mitochondria, making FRDA a fatal and debilitating condition. There are no currently approved therapies for the treatment of FRDA and molecules able to activate NRF2 have the potential to induce clinical benefits in patients. In this study, we compared the efficacy of six redox-active drugs, some already adopted in clinical trials, targeting NRF2 activation and frataxin expression in fibroblasts obtained from skin biopsies of FRDA patients. All of these drugs consistently increased NRF2 expression, but differential profiles of NRF2 downstream genes were activated. The Sulforaphane and N-acetylcysteine were particularly effective on genes involved in preventing inflammation and maintaining glutathione homeostasis, the dimethyl fumarate, omaxevolone, and EPI-743 in counteracting toxic products accumulation, the idebenone in mitochondrial protection. This study may contribute to develop synergic therapies, based on a combination of treatment molecules.

scholarly journals Purine Metabolism in Friedreich's Ataxia

1978 ◽  
Vol 5 (1) ◽  
pp. 143-147 ◽  
Author(s):  
P. Draper ◽  
B. Lemieux ◽  
I. H. Fox ◽  
D. Shapcott
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Purine Metabolism ◽  
Primary Defect ◽  
Nucleotide Synthesis ◽  
Normal Controls

SUMMARY:In a detailed investigation of nucleotide synthesis, intercom'ersion and degradation, no difference was found between subjects with Friedreich's Ataxia and normal controls. It appears improbable that this disorder is related to a primary defect in purine metabolism.

scholarly journals Friedreich's Ataxia in Northern Italy II. Biochemical Studies in Cultured Cells

1980 ◽  
Vol 7 (4) ◽  
pp. 409-412 ◽  
Author(s):  
B. Bertagnolio ◽  
G. Uziel ◽  
E. Bottachi ◽  
G. Crenna ◽  
A. D’Angelo ◽  
...  
Keyword(s):  
Cultured Cells ◽  
Pyruvate Dehydrogenase Complex ◽  
Friedreich’S Ataxia ◽  
Northern Italy ◽  
Friedreich's Ataxia ◽  
Normal Range ◽  
Primary Defect ◽  
Cultured Fibroblasts ◽  
Lipoamide Dehydrogenase ◽  
Optimized Conditions

SUMMARY:Pyruvate and palmitate oxidations by cultured fibroblasts suspensions were measured in optimized conditions and proved to be within normal range in the cells from Friedreich's patients. However, when pyruvate oxidation was measured by direct assay of the pyruvate dehydrogenase complex, this enzyme activity proved to be significantly lower in Friedreich's than in controls' cells. These abnormalities were not observed when the cells were sonicated. Moreover, lipoamide dehydrogenase activity. Km and Vmax were within the normal range in Friedreich 's cells. These data suggest that the low activities of the PDH complex are not a primary defect in Friedreich's ataxia, but are more likely related lo membrane abnormalities in Friedreich's cells.

Hypotrophic and dying-back nerve fibers in Friedreich's ataxia

Neurology ◽  
1986 ◽  
Vol 36 (10) ◽  
pp. 1292-1292 ◽  
Author(s):  
G. Said ◽  
M.-H. Marion ◽  
J. Selva ◽  
C. Jamet
Keyword(s):  
Friedreich’S Ataxia ◽  
Nerve Fibers ◽  
Friedreich's Ataxia ◽  
Dying Back

Otoneurological Findings in Friedreich's Ataxia and Other Inherited Neuropathies

1986 ◽  
Vol 25 (2) ◽  
pp. 84-91 ◽  
Author(s):  
E. Cassandro ◽  
F. Mosca ◽  
L. Sequino ◽  
F. A. De Falco ◽  
G. Campanella
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Inherited Neuropathies
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