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 Oral Lecithin and Linoleic Acid in Friedreich’s Ataxia: III. Biochemical Results

1982 ◽  
Vol 9 (2) ◽  
pp. 165-169 ◽  
Author(s):  
S.B. Melancon ◽  
L. Dallaire ◽  
M. Potier ◽  
J. Cousineau ◽  
M. Vanasse ◽  
...  
Keyword(s):  
Linoleic Acid ◽  
Biochemical Study ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Safflower Oil ◽  
Double Blind ◽  
One Year ◽  
The One ◽  
Blind Crossover Study ◽  
Double Blind Crossover Study

SUMMARY:Lecithin and sqfflower oil brought about the same changes in serum LAD activity and kinetics in patients with Friedreich’s Ataxia as in controls when results of this double-blind crossover study were analyzed according to group assignation. According to functional stages, pretrial LAD activity decreased with advancing severity while Km for lipoamide increased. Lecithin and sqfflower oil supplements corrected the elevated Km for lipoamide but produced a further reduction in LAD activity. These changes may have been due to the increased intake of linoleic acid, a precursor of lipoic acid, which is present in high percentage in both lecithin and safflower oil. Results of the biochemical study thus agreed with the clinical data gathered during the course of the one-year trial in suggesting that linoleic acid may well have been the active factor through which biochemical and clinical improvement was previously observed in patients with Friedreich’s Ataxia supplemented with lecithin.

scholarly journals Oral Lecithin and Linoleic Acid in Friedreich’s Ataxia: I. Design of the Study, Material and Methods

1982 ◽  
Vol 9 (2) ◽  
pp. 151-154 ◽  
Author(s):  
S.B. Melancon ◽  
L. Dallaire ◽  
M. Potier ◽  
M. Vanasse ◽  
P. Marois ◽  
...  
Keyword(s):  
Linoleic Acid ◽  
Muscle Strength ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Crossover Fashion ◽  
Double Blind ◽  
Blood Samples ◽  
Biochemical Evaluation ◽  
Motor Accuracy ◽  
Normal Controls

SUMMARY:A clinical and biochemical evaluation of twenty-two patients with Friedreich’s Ataxia and ten normal controls was undertaken in 1980 to assess the effect of lecithin and linoleic acid supplements on the course of the disease. The trial consisted of two consecutive six months periods on either supplements in a double-blind crossover fashion. Clinical appraisal was performed with regards to the following parameters: joints mobility, muscle strength, equilibrium, coordination, motor accuracy, speech and numerous day to day activities. Blood samples were obtained at the beginning and in the course of the trial for enzymatic determinations. This paper describes the methodology of the study.

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 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 Electrophysiological Investigation of the Auditory System in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 131-135 ◽  
Author(s):  
M.J. Taylor ◽  
J.B. McMenamin ◽  
E. Andermann ◽  
G.V. Watters
Keyword(s):  
Auditory System ◽  
Friedreich’S Ataxia ◽  
Auditory Brainstem ◽  
Friedreich's Ataxia ◽  
The Other ◽  
Auditory Brainstem Responses ◽  
Evoked Responses ◽  
Electrophysiological Investigation ◽  
Auditory Evoked Responses ◽  
Normal Controls

ABSTRACT:Auditory brainstem responses (ABRs) and cortical auditory evoked responses (AERs) were studied in a series of 16 Friedreich’s ataxia patients who varied in age, degree of clinical involvement and duration of the disorder. The ABRs were markedly abnormal in all but the youngest patient, and the abnormalities reflected the severity and duration of the disease. The latencies of the AERs were significantly longer in the Friedreich’s ataxia patients compared to normal controls, suggesting cortical as well as peripheral involvement of the auditory system. These data are discussed in terms of the neuropathology of the disorder and the similarities with the other sensory systems in Friedreich’s ataxia patients.

The Platelet of the Newborn Infant 5-hydroxytryptamine Uptake and Release

1973 ◽  
Vol 30 (02) ◽  
pp. 327-333 ◽  
Author(s):  
June M. Whaun
Keyword(s):  
Platelet Rich Plasma ◽  
Newborn Infants ◽  
Mean Value ◽  
Mean Values ◽  
Platelet Protein ◽  
Significant Difference ◽  
Comprehensive Survey ◽  
5 Ht Uptake ◽  
Normal Controls ◽  
Uptake And Release

SummaryIt is well recognized that some newborn infants experience unexplainable bruising, petechiae, and occasionally, intraventricular hemorrhage.Total endogenous 5-hydroxytryptamine (5-HT) and 14C-5-HT uptake and release Aver e studied as part of a comprehensive survey.Total endogenous 5-HT levels were assayed in platelets of normal adult subjects, parturient mothers, and full-term normal newborn infants. Mean values expressed as micromoles per 1011 platelets were 0.186 ±0.018 (S.E.), 0.138 ±0.02, and 0.069 ± 0.008 respectively. Mean values expressed as nanomoles per milligram platelet protein were 0.417±0.03 (S.E.), 0.371 ±0.04, 0.161 ±0.02, respectively. No significant difference was noted between samples from adult controls and those from mothers. Newborn platelets were significantly different from either adult control platelets or maternal platelets. 14C-5-HT binding was measured in platelet-rich plasma (PRP) in the three groups. No significant difference between the three groups was noted. 14C-5-HT release following addition of solubilized collagen to PRP was measured in each of the three groups. No significant difference was noted in samples from adult normal controls (mean value 53.2 ±2.5%) and samples from mothers who had not ingested aspirin or other drugs (mean value 53.7 ±3.4%). Newborn platelet samples in contrast did not release as completely as platelet samples of the other two groups (mean value 37.2±2.4%).Newborn platelets have both low serotonin stores, which may reflect immaturity of intestinal secretory function or block in amine synthesis, and an intrinsically defective reíase reaction which may reflect immaturity of membrane structure. Both these findings may provide further insight into altered hemostasis in the newborn.

scholarly journals Lipoamide Dehydrogenase in Friedreich's Ataxia Fibroblasts

1978 ◽  
Vol 5 (1) ◽  
pp. 115-118 ◽  
Author(s):  
S. B. Melançon ◽  
M. Potier ◽  
L. Dallaire ◽  
G. Fontaine ◽  
B. Grenier ◽  
...  
Keyword(s):  
Subcellular Distribution ◽  
Specific Activity ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Skin Fibroblasts ◽  
Lipoamide Dehydrogenase ◽  
Normal Controls

SUMMARY:Lipoamide dehydrogenase was measued in cultivated skin fibroblasts from twelve patients with Friedreich's ataxia and nine normal controls. No difference in specific activity, subcellular distribution and Vmax or Km was observed between patients and controls.

scholarly journals A Possible Genetic Pattern of Taurine Urinary Excretion in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 209-215 ◽  
Author(s):  
A. Barbeau ◽  
F. Patenaude ◽  
G. Nadon ◽  
M. Charbonneau ◽  
T. Cloutier
Keyword(s):  
Urinary Excretion ◽  
Autosomal Recessive ◽  
Genetic Defect ◽  
High Capacity ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Uptake System ◽  
Genetic Pattern ◽  
Before And After ◽  
Normal Controls

SUMMARY:The taurine urinary excretion pattern, before and after an oral load of 250 mg taurine, was studied in normal control subjects and in patients with typical Friedreich’s ataxia. It was demonstrated that in both situations the ataxic patients fell within the sub-types of “intermediate” and “high taurine excretors”, while none were “low taurine excretors”. It was also demonstrated that the excretion of taurine after a load in the obligate heterozygotes parents of the ataxic patients was intermediate between normal controls and patients. It is postulated that patients with Friedreich’s Ataxia lack normal regulation of the high affinity-low capacity uptake system for taurine (the TH system) in the brush border of kidney tubules. The low affinity-high capacity uptake system in the same membranes (the TL system) appears to be normal in Friedreich’s patients. The normal allele could be called THN and the variant THF and this trait would be inherited in an autosomal recessive fashion if it is linked to the Freidreich phenotype. Whether this finding is or is not the basic genetic defect in Friedreich’s Ataxia will require more studies to clarify, but it is of interest to note that a similar pattern appears to be present in the fibroblasts of these patients.

scholarly journals Friedreich's Ataxia 1979: An Overview

1979 ◽  
Vol 6 (2) ◽  
pp. 311-319 ◽  
Author(s):  
A. Barbeau
Keyword(s):  
Linoleic Acid ◽  
Pyruvate Dehydrogenase ◽  
Phenotypic Expression ◽  
Clinical Work ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
High Density Lipoproteins ◽  
Cholesteryl Esters ◽  
Cooperative Study ◽  
Lipoamide Dehydrogenase

SummaryThis overview summarizes the investigations carried out during the second part of Phase Two of the Quebec Cooperative Study of Friedreich's Ataxia. These investigations outline in more details the fundamental role played by an abnormality in the fatty acid composition (deficient linoleic acid, 18:2) of the cholesterol esters of high density lipoproteins (HDL) in the phenotypic expression of the disease. They postulate a defective incorporation of linoleic acid to surface phos-phatidylcholine of chylomicrons and consequent relative and absolute decreases in lipoproteinprotein components because of overpacking with defective cholesteryl esters. Secondarily to these changes, the postulated lack of activation of the lipoamide dehydrogenase (LAD) of the pyruvate dehydrogenase (PDH) complex could result in slow pyruvate oxidation, glucose intolerance, deficient synthesis of acetylcholine, and depletion of glutamic and aspartic acid pools. In parallel, abnormal phosphatidyl-choline molecules could be incorporated to membranes, resulting in specific defects in some functions of these membranes, including transport of calcium and I or taurine and myelinization. The framework of an understanding of Friedreich's ataxia is now available, but much fundamental and clinical work remains to be done to fill in and prove each one of these postulated steps.

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.

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