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

A patient with Friedreich's disease and chronic progressive external ophthalmoplegia is descirbed. An investigation was performed into the nature of the ocular motor disorders, which appeared clinically to be supranuclear. The EMG of the ocular muscles suggested myopathy. A specimen of ocular muscle was obtained by biopsy and examined with the light microscope and-for the first time-under the electron microscope. Signs of mitochondrial myopathy were found alongside neurogenic features. Postmortem examination of the central nervous system confirmed the diagnosis of Friedreich's disease with lesions of the motor cells in the anterior horn of the spinal cord. No evidence was found for a supranuclear or inernuclear origin of the ocular palsies, but 20-30 per cent of the neutrons in the nuclei III and IV were atrophic. Lesions of the non-medullated motor nerve fibres were also visible under the electron microscope. That the origin of the c. p. e. o. in this heredo-ataxia is neurogenic-nuclear is postulated on the grounds of the neuropathological and electronmicroscopic findings. Resemblances to the microscopic and submicroscopic and submicroscopic appearance of many types of "ocular myopathy" and "ophthalmoplegia-plus" throw doubt upon the myogenic character of these conditions. Possibly chronic, slowly progressive atrophy in the nuclear areas of the ocular motor nerves must in these cases also be held responsible for the c. p. e. o. Perhaps Moebius's Kern-Schwund theory may be revived after 85 years.
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PMID:Chronic progressive external ophthalmoplegia in a heredo-ataxia: neurogenic or myogenic? A clinical, neuropathological and submicroscopic study. 60 73

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.
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PMID:Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 64 99

Besides the spinal bone and foot deformations which are well known in Friedreich's disease, attention is drawn to deformations of the maxillodental system, the state of which was previously not studied. There was a pathology of bite in 16 of the 24 patients with Friedreich's familial ataxia. As a rule, these anomalies were combined with other bone deformations. In 2 families where several patients were examined there was a similar pathology of bite. A study of 24 patients and an examinations of a control group consisting of 151 individuals allows a conclusion that in Friedreich's disease pathology of bite is encountered almost as frequently as deformations of the spine and foot.
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PMID:[Bite anomalies in familial Friedreich's ataxia]. 72 55

A preliminary genealogical investigation of all the known ancestors from the year 1608 of 4 apparently unrelated French Canadian kindreds with Friedreich's ataxia reveals that the original ataxia gene in the province of Quebec was present within a core of no more than 10 families living in Quebec City in the mid-1600's.
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PMID:Friedreich's ataxia: preliminary results of some genealogical research. 100 Apr 13

Our prospective survey of 50 ataxic patients confirms the previous finding of frequent clinical or chemical diabetes in Friedreich's ataxia. Eighteen percent of our typical cases have clinical diabetes and 40% at least an abnormal glucose tolerance curve. However, this finding does not appear to be specific to that form of ataxia. Furthermore, we have shown that most patients with ataxia have normal or low fasting insulin levels, but a hyperinsulinic response to a glucose load.
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PMID:Glucose and insulin metabolism in Friedreich's ataxia. 100 Apr 22

The prospective investigation of 50 cases of possible Friedreich's ataxia has permitted the clinical and biochemical celineation of the typical disease and an hypothesis on its pathogenesis. A tentative definition of the disorder could read: "Friedreich's ataxia is a progressive degenerative disease always inherited in an autosomal recessive fashion and characterized by a cardiomyopathy and a ganglioneuropathy with dying back phenomenon. It is probably secondary to a defect in the membrane transport of taurine and beta-alanine and/or a defect in the regulation of pyruvate oxidation." The existence of two pathogenetically distinct distinct entities with the same phenotype is a strong possibility.
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PMID:Friedreich's ataxia 1976-an overview. 100 Apr 26

The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group Ia ("typical" Friedreich's ataxia, complete picture), Group Ib ("typical" Friedreich's ataxia, incomplete picture), Group IIa ("atypical" Frriedreich's ataxia, possible recessive Roussy-Levy syndrome), Group IIb (heterogeneous ataxias). The clinical symptoms and signs were analyzed for each of these groups. A constellation of signs constantly present in Friedreich's ataxia and obligatory for diagnosis was described. Other important symptoms, such as the Babinski sign, kyphoscoliosis and pes cavus were found to be progressive, but not essential for the diagnosis at any given time. Finally, a host of other symptoms can only be called accessory. The progression of scoliosis was found to be an important tool in the differential diagnosis of ataxias. Our study also indicates, in contrast to the opinion of some authors, that absent deep tendon reflexes in the lower limbs and early dysarthria are essential in "typical" Friedreich's ataxia.
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PMID:Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. 108 79

The authors analyze in EEG changes seen in 14 patients with Friedreich's ataxia and in 7 patients with Pierre Marie ataxia. In all cases there was a changed bioelectrical brain activity, more expressed in Friedreich's disease. These changes were in the forma of alpha- and beta-activity, in irregular sharp waves or groups of slow fluctuations in the theta- and delta-waves. These changes are not strictly specific for these disorders. In Pierre Marie's disease there was a certain correlation between the duration of the disease and expressiveness of EEG changes. In both disorders the expressiveness of the changes were significantly influenced by the degree of brain stem lesions.
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PMID:[Electroencephalographic changes in Firedreich's and Pierre-Marie disease]. 121 84

Among 300 patients affected by hereditary ataxia, 94 received the diagnosis of Friedreich's disease, 12 of Late Onset Friedreich's disease, 27 of Early Onset Cerebellar Ataxia with retained tendon reflexes, 10 of Progressive Myoclonic Ataxia, 4 of Ataxia with hypogonadism and 2 of Ataxia with hearing loss. Only Friedreich's disease appears clinically homogeneous, whereas the others are not specific entities and each of them probably includes different diseases.
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PMID:Early onset hereditary ataxias of unknown etiology. Review of a personal series. 129 85

A study was made of brainstem auditory evoked potentials (BAEP) in 66 patients from 56 families with different forms of spinocerebellar degenerations (SCD). 27 patients with olivopontocerebellar degeneration (OPCD), 13 patients suffering from Friedreich's disease (FD), 10 patients with Pierre Marie's familial ataxia (PMFA), 6 patients with late onset cerebellar atrophy (LOCA), and 10 patients with other forms of SCD were examined. The changes in BAEP turned out extremely diverse which can be regarded as a manifestation of marked phenotypic pleomorphism common to SCD. The most considerable changes in BAEP were discovered in FD and OPCD, whereas the least marked ones in PMFA and LOCA. The character and degree of BAEP disorders reflect the spreading and gravity of degenerative alterations in the brain stem in different forms of SCD. The authors discuss the possibility of the use of BAEP for objective estimation of the gravity and spreading of the pathological process as well as of the electrophysiological control over its course in SCD patients.
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PMID:[Brain stem auditory evoked potentials in spinocerebellar degeneration]. 133


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