scholarly journals The Syrian Golden Hamster: A Model for the Cardiomyopathy of Friedreich's Ataxia

1979 ◽  
Vol 6 (2) ◽  
pp. 223-226 ◽  
Author(s):  
J. Azari ◽  
T. Reisine ◽  
A. Barbeau ◽  
H.I. Yamamura ◽  
R. Huxtable
Keyword(s):  
Adrenergic Receptor ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Laboratory Model ◽  
Receptor Density ◽  
Significant Difference ◽  
Calcium Magnesium ◽  
The Difference ◽  
Whole Heart ◽  
Available Information

SummaryIn light of the available information on the cardiomyopathy of Friedreich's ataxia, the cardiomyopathic Syrian hamster may be an appropriate laboratory model. Cardiomyopathy in these animals is a result of calcium accumulation. We analyzed the atria and right and left ventricles from cardiomyopathic (CM) and random bred (RB) animals for calcium, magnesium, and iron concentrations at 30-40 and 60-70 days of age (age of maximum lesioning). There are no significant differences in the concentration of iron or magnesium among age-matched groups. The concentration of calcium in the left ventricles of the CM animals at 60 days old is 14 fold higher than that of R B animals. Although there is a significant difference in the concentration of calcium in the left ventricles of younger animals, it is not as pronounced as the difference in older animals. Analysis of the taurine concentration in 30-40 day old animals revealed that the CM animals show slightly higher taurine concentrations than RB in the whole heart. In 60 day old CM hamsters the ß-adrenergic receptor density of the ventricles is unchanged. This indicates that calcium overload is not due to a drene rg i c super sensitivity.

scholarly journals The importance of central auditory evaluation in Friedreich's ataxia

2018 ◽  
Vol 76 (3) ◽  
pp. 170-176 ◽  
Author(s):  
Bianca Simone Zeigelboim ◽  
Hélio A. G. Teive ◽  
Michèlli Rodrigues da Rosa ◽  
Jéssica Spricigo Malisky ◽  
Vinicius Ribas Fonseca ◽  
...  
Keyword(s):  
Pure Tone ◽  
Evoked Potential ◽  
Pure Tone Audiometry ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Auditory Evoked Potential ◽  
Acoustic Reflex ◽  
Cross Sectional ◽  
Significant Difference ◽  
Central Auditory Function

ABSTRACT Objective To assess central auditory function in Friedreich's ataxia. Methods A cross-sectional, retrospective study was carried out. Thirty patients underwent the anamnesis, otorhinolaryngology examination, pure tone audiometry, acoustic immittance measures and brainstem auditory evoked potential (BAEP) assessments. Results The observed alterations were: 43.3% in the pure tone audiometry, bilateral in 36.7%; 56.6% in the BAEP test, bilateral in 50%; and 46.6% in the acoustic immittance test. There was a significant difference (p < 0.05) in the comparison between the tests performed. Conclusion In the audiological screening, there was a prevalence of the descending audiometric configuration at the frequency of 4kHz, and absence of the acoustic reflex at the same frequency. In the BAEP test, there was a prevalence of an increase of the latencies in waves I, III and V, and in the intervals of interpeaks I-III, I-V and III-V. In 13.3% of the patients, wave V was absent, and all waves were absent in 3.3% of patients.

scholarly journals Oral Lecithin and Linoleic Acid in Friedreich’s Ataxia: II. Clinical Results

1982 ◽  
Vol 9 (2) ◽  
pp. 155-164 ◽  
Author(s):  
S.B. Melancon ◽  
M. Vanasse ◽  
G. Geoffroy ◽  
L. Barabe ◽  
A. Proulx ◽  
...  
Keyword(s):  
Linoleic Acid ◽  
Clinical Performance ◽  
Stage Iv ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Safflower Oil ◽  
Therapeutic Trial ◽  
Mean Values ◽  
Significant Difference ◽  
Normal Controls

SUMMARY:Twenty-two patients with Friedreich’s Ataxia and ten normal controls were followed for one year and assessed as to their clinical performance after two successive six-month periods of lecithin or safflower oil. Results demonstrated no significant difference in performance scores according to group assignation, neither in patients nor in controls. According to stages, two patients in stage I and to a lesser degree, one patient in stage IV showed better scores for muscle strength and some motor accuracy and coordination tests with lecithin. Controls as groups maintained positive scores in all tests. Patients as groups showed negative mean values in nine out of eleven tests. Again as groups, patients receiving safflower oil demonstrated a mean 8% less deterioration than patients receiving lecithin. This study demonstrates that objective clinical tests and the participation of normal controls are a must in a therapeutic trial implicating patients with a progressive disorder such as Friedreich’s Ataxia. The possible role of linoleic acid as the active factor from which clinical improvement proceeded in some specific patients and with early functional stages of the disease, has to be considered and reevaluated in the near future.

scholarly journals A Controlled Study of Oral Vigabatrin (ɣ-Vinyl GABA) in Patients with Cerebellar Ataxia

1986 ◽  
Vol 13 (4) ◽  
pp. 331-333 ◽  
Author(s):  
A.M. Bonnet ◽  
M. Esteguy ◽  
G. Tell ◽  
P.J. Schechter ◽  
J. Hardenberg ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Controlled Study ◽  
Olivopontocerebellar Atrophy ◽  
Irreversible Inhibitor ◽  
Double Blind ◽  
Double Blind Placebo ◽  
Significant Difference ◽  
Daily Dose

ABSTRACT:Vigabatrin (ɣ-vinyl GABA; GVG), an irreversible inhibitor of GABA-transaminase, at a daily dose of 2-4 g, and a placebo were each administered orally for 4 months to 14 patients with cerebellar ataxia (9 with Friedreich's ataxia, 5 with olivopontocerebellar atrophy), in a double-blind, placebo-controlled crossover study. For the group as a whole, there was no significant difference between the GVG and placebo periods in any of the parameters of cerebellar symptomatology measured. Individually, one patient showed some improvement after 3 months of treatment with 2 g/day GVG. Tolerance to 4 g/day GVG was poor, whereas 2 g/day was well tolerated. The results suggest that agents which increase central GABA concentrations are not likely to be of benefit to patients with Friedreich's ataxia or olivopontocerebellar atrophy.

scholarly journals Taurine and Beta-Alanine Uptake in Cultured Human Skin Fibroblasts from Patients with Friedreich's Ataxia

1979 ◽  
Vol 6 (2) ◽  
pp. 251-253 ◽  
Author(s):  
S.B. Melancon ◽  
B. Grignon ◽  
M. Potier ◽  
L. Dallaire
Keyword(s):  
Amino Acid ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Skin Fibroblasts ◽  
Carrier Protein ◽  
Human Skin Fibroblasts ◽  
Beta Alanine ◽  
Cultured Skin ◽  
Significant Difference ◽  
Amino Acid Carrier

SummaryTaurine and ß-alanine uptake kineiics were studied in cultured skin fibroblasts from 9 patients with Friedreich's Ataxia and 8 controls. No significant difference was observed. The data support the presence of normal ß-amino acid carrier protein in Friedreich's Ataxia cell membrane.

scholarly journals Hemagglutination by Lectins in Friedreich's Ataxia

1979 ◽  
Vol 6 (2) ◽  
pp. 299-309 ◽  
Author(s):  
M.S. Steinberg ◽  
J. Magnani ◽  
N. Czarkowski ◽  
M.B. Coccia ◽  
A. Barbeau
Keyword(s):  
Wheat Germ ◽  
Sodium Salicylate ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Soybean Agglutinin ◽  
Unrelated Control ◽  
Blood Samples ◽  
Significant Difference ◽  
Before And After ◽  
The Status

SummaryCoded erythrocyte samples from ten individuals with Friedreich*š ataxia, from parents of five of these individuals, and from five unrelated control individuals were subjected to lecţin agglutination tests at three temperatures; before and after trypsinization; and before and after treatment with echinocyte-producing sodium salicylate and stornato^ cyte-pröducing tetracaine followed by shape-fixation with glutaraldehyde. The aġglutinins tested were the polycationic poly-L-lysirie (PLL) and four lectins with different saccharide specificities: soybean agglutinin, wheat germ agglutinin, Ufex europeus agglutinin (VEA) and concana-valin A. Altogether, over 45,000 individual test wells were scored, the status of each blood donor with respect to diagnosis being disclosed to the experimenters only after all results were tabulated.The majority of these tests revealed no significant difference among the three groups of blood samples. A few tests did reveal statistically valid (p<0.0l) differences between groups, the most significant of which were the following: Trypsin ized control RBC were more sensitive, on average, to agglutination by VEA (fucose-inhibited) than were RBC of ataxies or their parents. Non-trypsinized control “stomatocytes” were less sensitive, on average, to agglutination by PLL than were those of ataxies or their parents. Trypsinization appeared, on average, to sensitive control but not ataxia or parent RBC to PLL-agglutination. Other differences of borderline (p-0.01-0.025) or near borderline (p = 0.025-0.05) significance were also noted. None of the statistically significant, Friedreich's ataxia-telated differences in median agglutination titers were large, the greatest being about threefold, and in every case the ranges of individual titers within the differing groups overlapped. Thus, none of these tests at present offers a method of pre clinic al diagnosis or carrier detection, and only further tests can establish whether even the differences observed in the present series of tests are reproducible.

scholarly journals Distribution of apolipoprotein E phenotypes in Friedreich's ataxia

1984 ◽  
Vol 11 (S4) ◽  
pp. 626-630 ◽  
Author(s):  
D. Bouthillier ◽  
A.C. Nestruck ◽  
R. Milne ◽  
C.F. Sing ◽  
A. Barbeau ◽  
...  
Keyword(s):  
Apolipoprotein E ◽  
Statistical Significance ◽  
Plasma Lipid ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Allelic Polymorphism ◽  
Plasma Triglycerides ◽  
Apo E ◽  
Phenotype Distribution ◽  
The Difference

AbstractAllelic polymorphism at the apolipoprotein E (apo E) gene locus (alleles ɛ2, ɛ3 and ɛ4) is responsible for the existence of 6 discrete electrophoretic phenotypes of plasma apo E. Since the presence of the ɛ2 allele in the genotype tends to be associated with higher triglyceride levels, a study was undertaken to determine if a higher frequency of this allele could account for the presence of higher plasma triglycerides in subsets of patients with Friedreich's Ataxia. The frequency of the apo E phenotypes was determined in 37 subjects with Friedreich's Ataxia and compared with that of 102 normolipidemic and 102 hyperlipidemic individuals. There was no increased prevalence of the E3/2 phenotype and the ɛ2 allele in the Friedreich's sample as is found in a hyperlipidemic sample. Furthermore, the ɛ2 subset did not have significantly higher plasma triglycerides than the non-ɛ2 subset and the hypothesis was rejected. On the other hand, there was a trend for a decreased frequency of the E4/3 phenotype in the Friedreich's sample relative to the hyperlipidemic group but the difference did not reach statistical significance. The apo E phenotype distribution was also measured in a smaller sample of Charlevoix-Saguenay disease; this led to the discovery of two siblings with the relatively rare E2/2 phenotype and unexpectedly low levels of plasma lipid and lipoprotein concentrations. Plasma apolipoprotein E concentrations in both diseases were within the normal range except for subjects bearing the E2/2 phenotype.

scholarly journals Free amino acids and calcium, magnesium and zinc levels in Friedreich's ataxia

1984 ◽  
Vol 11 (S4) ◽  
pp. 616-619 ◽  
Author(s):  
R.J. Huxtable ◽  
P. Johnson ◽  
S.E. Lippincott ◽  
A. Barbeau
Keyword(s):  
Free Amino ◽  
Skeletal Muscles ◽  
Calcium Content ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Calcium Magnesium ◽  
Amino Acid Levels ◽  
Zinc Levels ◽  
The Right ◽  
The Brain

ABSTRACT:Free amino acid levels and zinc, magnesium and calcium content have been determined in autopsy samples of 9 areas of the brain, two skeletal muscles, and the right ventricle, left ventricle and septum of the heart of a Friedreich's ataxia subject.

scholarly journals Taurine Decreases Lesion Severity In the Hearts of Cardiomyopathy Hamsters

1980 ◽  
Vol 7 (4) ◽  
pp. 435-440 ◽  
Author(s):  
Jamshid Azari ◽  
Peter Brumbaugh ◽  
André Barbeau ◽  
Ryan Huxtable
Keyword(s):  
Drinking Water ◽  
Left Ventricle ◽  
Adrenergic Receptor ◽  
Calcium Concentration ◽  
Calcium Overload ◽  
Receptor Density ◽  
Cardiomyopathic Hamsters ◽  
Cardiac Lesions ◽  
Calcium Magnesium ◽  
Lesion Severity

SUMMARY:Cardiomyopathic Syrian hamsters develop necrotic lesions consequent upon calcium overload from 60 days of age onward. Taurine, given as a 0.1M solution in place of drinking water for one month prior to sacrifice of animals of initial age 35 days, decreased the severity of subsequently developing cardiac lesions by 40%. Calcium concentration in the heart was decreased by 57%. Magnesium and iron concentrations were unaltered. Taurine given in a similar manner for 4 months had a protective effect, decreasing lesion severity by 21% and calcium concentration by 35%. Magnesium concentrations were increased by 12%. Compared to randombred animals, cardiomyopathic hamsters at one and two months of age have the same concentrations of calcium, magnesium and iron in the quadrants of the heart, except in the left ventricle, which has significantly higher concentration of calcium. Calcium concentrations are 70%, 1320% and 2100% higher respectively in one month, two month and five month old animals. Five month old animals differ slightly but significantly in iron (17% decrease) and magnesium concentrations (17% increase).Cardiomyopathic hamsters have insignificant differences in β-adrenergic receptor density compared to random-bred animals and have a significantly higher rate of taurine influx.

scholarly journals Effect of Gamma-Vinyl GABA in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 171-173 ◽  
Author(s):  
Y. De Smet ◽  
J.Y. Mear ◽  
G. Tell ◽  
P.H. Schechter ◽  
F. Lhermitte ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Open Study ◽  
Cerebellar Atrophy ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Irreversible Inhibitor ◽  
Gaba Transaminase ◽  
Preliminary Results ◽  
Significant Difference

SUMMARY:Gamma-Vinyl GABA, an irreversible inhibitor of GABA-transaminase, was administered orally in two daily doses of 250 mg to 10 patients with cerebellar ataxia (9 with Friedreich’s ataxia, one with olivo-ponto-cerebellar atrophy) for at least one month in an open study. No significant difference occurred in the disability scores of cerebellar symptomatology for the group as a whole, but seven patients showed some improvement in scores with treatment and two patients claimed marked subjective amelioration. Tolerance to Gamma-Vinyl-GABA treatment was excellent. These preliminary results suggest that further studies with well-tolerated agents which enhance CNS GABA-ergic function are warranted in patients with cerebellar ataxia.

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