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)

"Acadian ataxia" is a form of Friedreich ataxia found in individuals of Acadian ancestry. It was described by Barbeau (in Sobue I (ed): Spinocerebellar Degeneration; Tokyo: Univ. Tokyo Press, pp 121-142, 1980) as having a slower course of degeneration and less severe secondary symptoms than "classical" Friedreich ataxia. He suggested that these 2 forms of the disease may be distinct. The mutation causing "classical" Friedreich ataxia has recently been mapped to chromosome 9 through genetic linkage studies, and here we show that the locus causing Friedreich ataxia in Acadian families from southwestern Louisiana is tightly linked to the same DNA marker, D9S15. Thus, these 2 disorders, which may be differentiated clinically, are most probably due to mutation(s) at the same locus on chromosome 9.
 ...
PMID:"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus. 276 36

The purpose of this case study was to determine whether a patient with Friedreich ataxia (FA) would experience a clinically significant physiologic adaptation to aerobic endurance training. A 38-year-old man with FA underwent graded exercise testing with collection of expired gases on a bicycle ergometer before and after training, to determine maximum work capacity and oxygen consumption. Training consisted of 27 electrocardiographically monitored exercise sessions on the ergometer, each for 20 to 25 minutes at a workload adjusted to achieve an exercising heart rate equal to 70% to 85% of his pretest maximum, preceded and followed by a stretching routine. Large increases in cardiorespiratory and work measures demonstrated clinically important physiologic adaptations to aerobic conditioning in this patient. Peak VO2 increased 27% and peak ventilation increased 21%. Total exercise time increased five minutes, reflecting a 50-watt increase in maximum workload. In addition, the patient experienced a 4.75-kg weight loss. A medically supervised endurance training program can increase aerobic work capacity and promote weight loss in patients with FA who can pedal a bicycle at training level intensities.
 ...
PMID:Endurance exercise training in Friedreich ataxia. 280 61

An autosomal recessive disorder, abetalipoproteinemia or Bassen-Kornzweig disease, concerning two sisters are described. This disorder, clinically similar to Friedreich ataxia, should be examined by electrophysiological and laboratory procedures because of the possibility of treatment by high doses of vitamin A and E. The routine electrophysiological examination of the two sisters revealed a degenerative spinocerebellar and peripheral nervous process which confirmed the damage of large myelinated fibers, as reported in the literature: neurogenic muscular atrophy of distal muscles, polyphasic motor unit potentials, moderately decrease of lower motor and sensory nerve conduction rates, and reduced amplitude of evoked responses in sensory nerves and muscles. We stress out the diagnostic value of the heterogenous conduction decrease in the distal motor fibers, signs of processes of demyelination or distal regeneration.
 ...
PMID:[Role of the electrophysiologic examination in the diagnosis of Bassen-Kornzweig syndrome]. 284 98

Classical Friedreich ataxia, a progressive, neurodegenerative disorder involving both the central and peripheral nervous systems, has been subclassified according to the observed clinical heterogeneity. The variations in the age at onset and in the spectrum and severity of symptoms have previously been interpreted as evidence of genetic heterogeneity. We have studied the linkage between the disorder and closely linked DNA markers in families of distinct ethnic origins, including the "typical" French-Canadians and the Acadian population of Louisiana. The disease in these two populations, both of continental French origin, has a very similar initial clinical picture. However, a marked difference in the rate of progression of the obligatory symptoms after 10 years of apparent disease is observed. A total of 553 individuals from 80 families with 202 affected members have been typed with the chromosome 9 marker MCT112, which we have previously shown to be closely linked to the disease locus. Evidence for linkage was observed in all families with the generation of a combined total lod score of 25.09 at a recombination fraction of theta = .00, providing strong evidence for genetic homogeneity at this locus for the classical form of this disease.
 ...
PMID:Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. 292 96

Friedreich ataxia (FRA) is an autosomal recessive neuromuscular disorder in which nearly all affected homozygotes eventually develop significant cardiomyopathy and a substantial proportion also develop diabetes mellitus. Diabetes and early heart disease have been observed previously in close blood relatives of FRA patients. To test the hypothesis that FRA heterozygotes may have elevated rates of heart disease mortality and diabetes incidence, we compared the rates of these conditions in 1,191 adult blood relatives to those in 745 nonblood relative spouse controls in 27 families of FRA patients. We found no evidence for an excess of diabetes in the blood relatives. For three broad categories of circulatory disease mortality, the FRA blood relatives had significantly higher rates than the spouse controls. However, when each relative's prior probability of heterozygosity for the FRA gene was taken into account, the resulting estimates of relative risk of dying from circulatory disease for FRA heterozygotes compared to nonheterozygotes were not significantly elevated. Since the latter analysis provides the best test of the hypothesis, our data did not strongly support the hypothesis that FRA heterozygotes are at increased risk of cardiac death.
 ...
PMID:Circulatory disease mortality and diabetes incidence in 27 families with Friedreich ataxia. 320 55

Thirty-three children presenting with "primitive" cardiomyopathy observed from January 1984 to December 1985 underwent a protocol of investigations consisting of histo-enzymatic study of the deltoid muscle, metabolic studies (glucose, free fatty acids, lactate, pyruvate, 3-hydroxybutyrate, aceto-acetate, carnitine, amino-acids blood levels after a 15 hour-fast; urinary organic acids chromatography) and a study of the fatty acids oxidation in cultured fibroblasts. In all children cardiac involvement was predominant and had been the cause for hospitalization. Cardiomyopathies of the hypertrophic type have an early onset, most often are part of a complex picture of extra-cardiac involvement and frequently have a lethal evolution. On the contrary, hypokinetic dilated cardiomyopathies are most often isolated, have a later onset and a less severe course. In 2 cases, an early hypokinetic dilated cardiomyopathy evolved toward hypertrophy. Peripheral muscular involvement is very frequent (lipidosis, mitochondrial aggregates or specific aspects) (60% of cases) in dilated as well as hypertrophic types. A precise etiological diagnosis or a strong presumption was possible in 12 of 33 cases: 2 with hereditary deficiency of the fatty acids beta-oxidation, 1 carnitine systemic deficiency, 1 Friedreich ataxia, 1 central core disease, 1 coxsackie B1 myocarditis, 6 strong suspicions of respiratory chain deficiency.
 ...
PMID:[Apparently idiopathic primary myocardiopathies in children. The role of metabolic etiology]. 344 58

Friedreich ataxia, a progressive neurodegenerative disorder, is an autosomal recessive disease with a carrier frequency of 1/110 in the United Kingdom. The pathophysiological basis for the disease is not known and the chromosomal location of the mutation remains unidentified. As part of an attempt to map the mutation using linked DNA markers, we demonstrate that the Friedreich ataxia gene is excluded from human chromosome 19. This study also demonstrates that the insulin receptor, which maps to chromosome 19 and may be associated with abnormal biochemical features in some patients, is not the basic defect.
 ...
PMID:Exclusion of the Friedreich ataxia gene from chromosome 19. 347 47

Friedreich ataxia (FA) is an autosomal recessive, neuro-degenerative disorder in which the pathogenetic mechanism remains unidentified despite extensive biochemical studies. Genetic-linkage studies provide an alternative approach to determining the basic defect. Linkage analysis between FA and 36 polymorphic-blood-group and protein markers has been carried out on three separate patient populations--16 families from the inbred Acadian population of Louisiana, 21 French-Canadian families from Quebec, and nine apparently unrelated British families--in an attempt to determine the chromosomal location of the disease mutation. Neither evidence of linkage to any of the markers investigated nor heterogeneity among the populations was found for any of the comparisons. The negative lod scores exclude the locus for FA from greater than 20% of the genome.
 ...
PMID:Linkage studies of Friedreich ataxia by means of blood-group and protein markers. 347 56

The results of NMR imaging in 8 cases of spinocerebellar degenerative diseases (age 4 to 19 years) are presented. In Friedreich ataxia (5 cases), spinal atrophy was constant and often severe, and was associated with a moderate cerebellar and/or bulbar atrophy in 3 cases. In hereditary spastic paraplegia, the only finding was a mild spinal atrophy in 2 of the 3 cases.
 ...
PMID:[Magnetic resonance imaging in spinocerebellar degenerative diseases (apropos of 8 cases)]. 348 Oct 70

Numerous neurological disorders are associated with myocardial disease or involve the cardiovascular system. Echocardiography thus proves quite helpful in the evaluation and management of patients with problems such as hydrocephalus, tuberous sclerosis, Friedreich ataxia, mitochondrial encephalo-myopathies, Werdnig-Hoffmann disease, convulsive disorders, syncope, central nervous system infections, etc.
 ...
PMID:Echocardiography in neurological disorders. 355 83


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