Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a previous study we reported low values of taurine and aspartic acid in the CSF of patients with Friedreich's ataxia, when the results were compared to the literature. Further studies have revealed that unforetold difficulties with the advertised methodology of sequential multi-sample amino acid analysis were responsible for low values in the determination of these two amino acids in the small volumes necessary for CSF. A corrected method is presented. With the latter method the differences disappear for CSF taurine and aspartic acid, but they remain valid for the previously reported blood and urine values in Friedreich's ataxia. GABA levels are also normal in Friedreich's ataxia CSF.
 ...
PMID:Taurine in cerebrospinal fluid in Friedreich's ataxia. 64 88

In a detailed investigation of nucleotide synthesis, interconversion 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.
 ...
PMID:Purine metabolism in Friedreich's ataxia. 64 92

In the present overview an attempt is made to summarize the investigations carried out during the first part of Phase Two of the Quebec Cooperative Study of Friedreich's Ataxia. These investigations delineated the relative importance of various biochemical leads uncovered during the preliminary survey. It is possible to indicate some findings that may be primary and which should be pursued in subsequent investigations. Among these, the observation of an abnormal composition of high density lipoproteins in Friedreich's Ataxia appears to be the most important.
 ...
PMID:Friedreich's Ataxia 1978--an overview. 64 93

A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum beta-lipoproteins and HDL apoproteins. These features are similar to those found in typical Friedreich's ataxia.
 ...
PMID:Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 64 99

A thorough investigation of vestibular function has been carried out in 16 patients with typical Friedreich's ataxia. Electronystagmography and caloric tests revealed a number of inconstant abnormalities. Most abnormal findings were related to ocular dysmetria, disorganized pursuit and square waves.
 ...
PMID:Clinical and electronystagmographic findings in Friedreich's ataxia. 64

The hypothesis is that an abnormal oxygen-hemoglobin dissociation curve is a primary or a secondary defect in patients with Friedreich's ataxia was investigated in 12 subjects with this disease. Hemoglobin and P50 were measured and compared with age and sex matched controls. The mean hemoglobin concentration was 14.2 g% and the P50 was 26.25 torr for the patients and 13.8 g% and 26.27 torr in the controls. These results indicate that the oxygen transport system is normal in this disease and likely exclude an abnormal oxygen dissociation curve as a primary or a secondary factor in the pathophysiology of the cardiomyopathy and the neuromyopathy found in this disease.
 ...
PMID:Oxygen transport in patients with Friedreich's ataxia. 64 3

The mean percentage of linoleate to total fatty acids in phosphatidylcholine and lysophosphatidylcholine fractions of serum phospholipids from neuropathic patients with HMN (hereditary motor neuropathy, also called distal type of progressive muscular atrophy), HMSN-I and HMSN-II (two types of peroneal muscular atrophy), and FA (Friedreich's ataxia) was reduced by approximately 10--20% (P less than 0.001). On the other hand, the mean percentage of nervonic acid in sphingomyelin was elevated by 9--20%. No significant difference was observed in phosphatidylethanolamine between neuropathic patients and control subjects. The mean concentration of phosphatidylcholine and sphingomyelin was also significantly reduced in neuropathic patients (except in HMN and HMSN-III). A significant correlation between endogenous 2-linoleoyl-sn-glycerol-3-phosphocholine and cholesteryl linoleate synthesis in vitro suggests that the decreased activity of phosphatidylcholine acyltransferase (EC 2.3.1.43; LCAT) in neuropathic patients is influenced by the fatty acid composition of their lipoprotein substrate. Furthermore, the reduction of phosphatidylcholine and of cholesteryl linoleate synthesis in vitro in neuropathic patients was affected by age and sex. It is unlikely that the reduced linoleate level in serum phosphatidylcholine for most, possibly all, of the inherited neuropathies studied here reflects a specific biochemical disorder. Possibly it reflects a more generalized biochemical alteration common to inherited neuropathy. One possibility is that biosynthesis of new membrane in axonal regeneration, segmental remyelination and Schwann cell hyperplasia may reduce the serum linoleate pool.
 ...
PMID:Lipid abnormalities in hereditary neuropathy. Part 2. Serum phospholipids. 65 Feb 57

We observed a brother and sister with Friedreich's ataxia during steady fixation. They both had abnormal eye movements consisting of randomly occurring, small amplitude, conjugate horizontal saccades away from the fixation target. The saccades were followed by maintenance of this eccentric position for a brief period, and finally, a corrective saccade back to the original position. Electro-oculographic recordings showed these eye movements to be square wave jerks. They had an amplitude ranging from 1.5 to 10.7 degrees and a duration averaging less than 200 msec. Square wave jerks were also superimposed on pursuit movements in both patients. Square wave jerks are an additional ocular finding that may signify chronic cerebellar dysfunction. More specifically, they are an additional neuro-ophthalmological finding that may be observed in Friedreich's ataxia.
 ...
PMID:Square wave jerks in Friedreich's ataxia. 65 19

Lipoamide dehydrogenase was identified in cultured skin fibroblasts of normal individuals and patients with Friedreich's ataxia. The optimum conditions for its assay were defined. Data disclosed a normal range of 36--122 mumol/min/mg protein in control fibroblasts and 61--112 mumol/min/mg protein in patients fibroblasts. Numerous precautions should be taken in handling fibroblast cultures for lipoamide dehydrogenase determination.
 ...
PMID:Lipoamide dehydrogenase in cultured human skin fibroblasts. 66 42

In familial Friedreich's ataxia besides lesions of the nervous system there is also cardiac pathology, which frequently may be the reason of a lethal outcome. As a result of a clinico-morphological study of the heart of a deceased patient, it was demonstrated that the character of morphological changes points to severe dystrophical changes of the myocardium of the "idiopathical" cardiomyopathy type.
 ...
PMID:[Cardiac changes in familial Friedreich's ataxia (clinico-morphologic study)]. 72 54


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>