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.

scholarly journals Plasma Lipoprotein Lipase and Hepatic Lipase Activities in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 191-194 ◽  
Author(s):  
D. Blache ◽  
D. Bouthillier ◽  
A. Barbeau ◽  
J. Davignon
Keyword(s):  
Lipoprotein Lipase ◽  
Hepatic Lipase ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Hepatic Triglyceride ◽  
Normal Range ◽  
Triglyceride Lipase ◽  
Plasma Triglycerides ◽  
Control Subjects ◽  
Hepatic Triglyceride Lipase

SUMMARY:Plasma triglycerides although within the normal range have been shown to be higher in Friedreich’s ataxia than in control subjects. To determine whether this difference could be ascribed to a reduced catabolism of triglyceride-rich lipoproteins, the activities of lipoprotein lipase (LPL) and hepatic triglyceride lipase (HL), released into plasma after an heparin injection, were measured in 13 cases of Friedreich’s ataxia and 14 control subjects of comparable signs. LPL was found to be significantly lower in the ataxic patients. Moreover about half of the cases clustered below the normal range for both lipase activities. This subgroup of Friedreich’s patients had significantly higher plasma triglycerides than those with normal lipase activities. Further studies are needed to relate these findings to other characteristics of the disease.

scholarly journals Erythrocyte Protoporphyrin Levels in Patients with Friedreich's and other Ataxias

1979 ◽  
Vol 6 (2) ◽  
pp. 227-232 ◽  
Author(s):  
R.O. Morgan ◽  
G. Naglie ◽  
D.F. Horrobin ◽  
A. Barbeau
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Normal Range ◽  
Free Erythrocyte Protoporphyrin ◽  
Erythrocyte Protoporphyrin ◽  
The Individual

SummaryOf 13 patients with Fried-reich's ataxia (Type la) and 17 with type Ila recessive ataxias, all were found to have levels of “free erythrocyte protoporphyrin “ (FEP) above the normal range. The rise in FEP in Friedreich's ataxia correlated well with the age of the individual and thus appears to be related to the course of the disease. Subjects with olivo-ponto-cerebel-lar atrophy, Charlevoix syndrome, Duchenne muscular dystrophy, and Parkinson's disease were also found to have significantly elevated FEP, although the distribution overlapped with the normal range.The finding of elevated FEP may indicate a relative heme deficiency in ataxia due to inhibition offerrochelatase leading to a state of ineffective, persistent erythropoiesis. The possibility of a prosta-glandin abnormality being related to this defect and to the pathogenesis of ataxia is considered.

scholarly journals Serum and Platelet Lipoamide Dehydrogenase in Friedreich's Ataxia

1978 ◽  
Vol 5 (1) ◽  
pp. 111-114 ◽  
Author(s):  
A. Filla ◽  
R. F. Butterworth ◽  
G. Geoffroy ◽  
B. Lemieux ◽  
A. Barbeau
Keyword(s):  
Standard Deviation ◽  
Normal Control ◽  
Pyruvate Dehydrogenase ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Control Subjects ◽  
Lipoamide Dehydrogenase

SUMMARY:Pyruvate dehydrogenase (PDH), α -keto gluturate dehydrogenase (α -KGDH) and lipoamide dehydrogenase (LAD) were measured in platelets of II patients with typical Friedreich's ataxia and 10 normal control subjects. Serum LAD was also evaluated in the same patients. No statistically significant changes were found in platelets for the group as a whole, although some patients had low values (more than one standard deviation below control mean). Serum LAD was significantly reduced in the patients with Friedreich's ataxia. This was not due to associated diabetes.

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 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 SERUM LIPOAMIDE DEHYDROGENASE IN FRIEDREICH'S ATAXIA

1977 ◽  
Vol 11 (4) ◽  
pp. 460-460 ◽  
Author(s):  
Serge B Melancon ◽  
Michel Potier ◽  
Louis Dallaire ◽  
Guy Geoffroy ◽  
Bernard Lemieux ◽  
...  
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Lipoamide Dehydrogenase

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 Friedreich's Ataxia in Northern Italy: I. Clinical, Neurophysiological and In Vivo Biochemical Studies

1980 ◽  
Vol 7 (4) ◽  
pp. 359-365 ◽  
Author(s):  
A. D’Angelo ◽  
S. Di Donato ◽  
G. Negri ◽  
F. Beulche ◽  
G. Uziel ◽  
...  
Keyword(s):  
Laboratory Finding ◽  
Friedreich’S Ataxia ◽  
Northern Italy ◽  
Friedreich's Ataxia ◽  
Biochemical Data ◽  
Presumptive Diagnosis ◽  
Biochemical Studies

SUMMARY:Eighteen patients with the presumptive diagnosis of Friedreich's ataxia were studied. Clinical, neurophysiological and biochemical data were concordant in 14 patients and led to the diagnosis of typical Friedreich's ataxia in this group of patients. The remaining 4 patients differed from the typical patients in several respects, but mainly in the cardiological findings. It is concluded that no single clinical or laboratory finding is typical of F.A. Multidisciplinary approaches are essential to the diagnosis of Friedreich's ataxia.

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