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)

Neurological syndromes similar to those associated with abetalipoproteinaemia or Friedreich's ataxia developed in four patients with chronic steatorrhoea, two of whom had cystic fibrosis and two chronic cirrhosis of childhood. Serum concentrations of vitamin E were virtually undetectable in all four patients. Substantial clinical improvement occurred in one patient after restoration of normal vitamin E levels by parenteral therapy. The findings suggest that spinocerebellar degeneration may be secondary to severe and prolonged vitamin E deficiency.
Lancet 1981 Dec 12
PMID:Association of spinocerebellar disorders with cystic fibrosis or chronic childhood cholestasis and very low serum vitamin E. 611 19

The author reports his experience on Refsum's disease and that gained after personally examining in detail 64 patients with Charcot-Marie-Tooth disease over the past ten years. The "cerebellar" inco-ordination in Charcot-Marie-Tooth disease (with or without distal wasting) and in Refsum's disease is analysed. Some variations in the motor and sensory neuropathy of Charcot-Marie-Tooth disease and Refsum's disease are discussed. The adequacy of motor conduction velocity in genetically distinguishing types of the above mentioned familial peripheral neuropathies is reviewed. Data on the neuropathy assessed by modern techniques of three original patients of Roussy and Levy (1926) are given. The possibility of extensor plantar responses in patients with Charcot-Marie-Tooth and Refsum's disease without structural lesion of the pyramidal tract is pointed out. The existence of the association between Friedreich's ataxia and Charcot-Marie-Tooth disease is criticised. It is emphasised that spinocerebellar degeneration (other than Friedreich's ataxia) presenting with distal limb weakness and wasting and sensory impairment may mimic Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry 1982 Dec
PMID:Ataxia and other data reviewed in Charcot-Marie-Tooth and Refsum's disease. 618 70

We previously found that some patients with multiple sclerosis are selectively 'deaf' to changes in the pitch of a tone, even when audiometric sensitivity to pure tones is unimpaired. This subtle form of deafness is not experienced by patients with noise-induced hearing loss of exclusively peripheral origin. It was suggested that this auditory defect may be one possible cause for difficulties in discriminating speech, on the grounds that frequency changes in the speech waveform are known to be important for intelligibility. This implication is not self-evident; our earlier studies tested hearing with a single pure tone that was either frequency-modulated or amplitude-modulated, while even a simple approximation to speech sounds involves not one, but three narrow bands of noise (formants) whose frequencies and intensities change from instant to instant. The present study has investigated the ability of subjects to discriminate between speech-like sounds. These consisted of three formant frequencies generated by computer. The only difference between the sounds was that the lowest-frequency formant rose or fell in pitch by different amounts. In order to ensure that subjects used frequency (pitch) cues rather than any associated loudness cues were mixed different loudness shifts with the frequency shifts. Nineteen control subjects, 25 patients with multiple sclerosis (MS) and 4 patients with Friedreich's ataxia (FA) were tested. Nine of the patients with MS and all 4 patients with FA gave results that fell outside the range of the control subjects. A possible pathophysiological basis for this observation is the finding that some neurons in the auditory pathway of animals respond preferentially to changes in tone frequency: homologues of these neurons might be functionally impaired in some patients with MS and FA.
Brain 1984 Dec
PMID:Degraded discrimination between speech-like sounds by patients with multiple sclerosis and Friedreich's ataxia. 650 11

Clinical and neuropathological descriptions are given of four cases of an uncommon disease, characterised by simultaneous degeneration of the dentato-rubral and pallido-luysian systems. These four are compared with sixteen previously described cases, and the group as a whole is compared and contrasted with other multisystem degenerations, such as olivo-ponto-cerebellar atrophy and Friedreich's ataxia. A pathological feature described here for the first time is degeneration of the fastigio-vestibular system. Clinically, there are three main types of the disease; (1) an ataxo-choreoathetoid type, (2) a pseudo-Huntington type, and (3) a myoclonic-epileptic type. There are familial cases of types 2 and 3. Oculomotor disturbances, associated with atrophy of the brainstem tegmentum, are observed in cases of types 1 and 3.
J Neurol Neurosurg Psychiatry 1984 Dec
PMID:Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study. 651 49

This report concerns possible adverse health effects and benefits that might result from consumption of large amounts of choline, lecithin, or phosphatidylcholine. Indications from preliminary investigations that administration of choline or lecithin might alleviate some neurological disturbances, prevent hypercholesteremia and atherosclerosis, and restore memory and cognition have resulted in much research and public interest. Symptoms of tardive dyskinesia and Alzheimer's disease have been ameliorated in some patients and varied responses have been observed in the treatment of Gilles de la Tourette's disease, Friedreich's ataxia, levodopa-induced dyskinesia, mania, Huntington's disease, and myasthenic syndrome. Further clinical trials, especially in conjunction with cholinergic drugs, are considered worthwhile but will require sufficient amounts of pure phosphatidylcholine. The public has access to large amounts of commercial lecithin. Because high intakes of lecithin or choline produce acute gastrointestinal distress, sweating, salivation, and anorexia, it is improbable that individuals will incur lasting health hazards from self-administration of either compound. Development of depression or supersensitivity of dopamine receptors and disturbance of the cholinergic-dopaminergic-serotinergic balance is a concern with prolonged, repeated intakes of large amounts of lecithin.
Fed Proc 1982 Dec
PMID:Effects of consumption of choline and lecithin on neurological and cardiovascular systems. 675 53

Pyruvate dehydrogenase complex (PDHC) activity was measured in cultured fibroblasts from 12 patients with Friedreich's ataxia (FA), and in 1 patient with lactic acidosis and ataxia. The activities obtained after extraction of PDHC by different methods were compared. Triton-X-100 extraction yielded enzyme activities 5 to 10 times greater than those obtained with the older methods. With this sensitive technique, PDHC activity was markedly deficient in fibroblasts from the patient with lactic acidosis and ataxia but it was normal in the fibroblasts from FA patients. Mg++ activation of the PDHC in FA fibroblasts was normal.
Ital J Neurol Sci 1982 Dec
PMID:Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia. 682 14

Skin fibroblasts from seven patients with Friedreich's ataxia showed a small but significant increase in sensitivity to ionising radiation, as measured by post-irradiation clonal growth, when compared with cells from ten age-matched control subjects and from eight patients with motor neuron disease. Fibroblasts from three patients with Friedreich's ataxia also showed impairment of their ability to repair potentially lethal damage after ionising radiation. These findings are consistent with the view that defective DNA reparative mechanisms may be involved in the pathogenesis of Friedreich's ataxia.
J Neurol Neurosurg Psychiatry 1982 Dec
PMID:Studies of cellular hypersensitivity to ionising radiation in Friedreich's ataxia. 716 8

The distribution of age of onset and age of losing the ability to walk independently in patients with Friedreich's ataxia from 93 sibships are presented. Intrafamilial correlation was investigated using three methods: the Pearson product-moment correlation coefficient and to estimates of correlation based on analysis of variance, one a maximum likelihood method and the other using a weighted mean family size. All three resulted in correlation coefficients (r) of around 0.5 for both disease parameters. The latter two methods yielded similar values just greater than 0.5 and it is considered that these are more reliable estimates of intraclass correlation as there were a variable number of family members in the sibships studied. Although the examination of intraclass correlation in Friedreich's ataxia was not highly suggestive of genetic heterogeneity, the observed proportion of first cousin marriages amongst the parents of the sibships studied was about twice the expected proportion. Overall, the data would be compatible with genetic heterogeneity if one genotype is more prevalent than others. An alternative hypothesis is that there are different modifying genes operating within different families in which Friedreich's ataxia occurs.
Clin Genet 1981 Dec
PMID:Intrafamilial correlation in Friedreich's ataxia. 733 57

A nationwide epidemiological study on spinocerebellar degeneration (SCD) including multiple system atrophy was performed in Japan from 1988 to 1989. The national prevalence rate of SCD was estimated to be 4.53/100,000 in 1987. The percentage of patients with each subtype of SCD was; olivopontocerebellar atrophy (OPCA) 34.4%, Menzel type of hereditary cerebellar ataxia (MHCA) 12.6%, Holmes type of hereditary cerebellar ataxia (HHCA) 7.5%, Shy-Drager syndrome (SDS) 7.0%, hereditary spastic paraplegia (HSP) 3.9%, dentatorubro-pallidoluysian atrophy (DRPLA) 2.5%, Friedreich ataxia (FA) 2.4%, Joseph disease (JD) 2.0%, and striatonigral degeneration (SND) 1.5% in decreasing order. In Japan, compared to European countries, non-hereditary types seemed to be commoner than hereditary types. OPCA was the most common disorder, but FA which is the most common disorder in European countries was found to be rare in Japan. We grouped the SCD on the basis of common pathological lesions, and compared the clinical features in the same group according to the severity stages. Similarity and differences in non-hereditary cerebellar form (LCCA, HHCA), multiple system atrophy (OPCA, SDS, SND), hereditary cerebello-brainstem form (MHCA, JD, DRPLA), and hereditary spinal from (FA, HSP) were elucidated. As to the functional status in SCD, there was a significant association between the severity of illness and the level of independence in each item of ADL, and also between poorer functional prognosis and presence of extrapyramidal and autonomic signs.
Rinsho Shinkeigaku 1993 Dec
PMID:[Spinocerebellar degeneration in Japan--the feature from an epidemiological study]. 817 25

Eighty one patients with the clinical diagnosis of non-hereditary or hereditary spinocerebellar degeneration were examined by magnetic resonance imaging (MRI). The MRI findings were subdivided into non-cerebellar atrophy, cerebellar atrophy without and with apparent enlargement of the fourth ventricle as a result of atrophy of the middle or superior cerebellar peduncles. The first pattern of non-cerebellar atrophy included ataxias such as Friedreich's ataxia and Machado-Joseph disease (MJD; type II). In the patients with MJD, atrophy of the brainstem was frequently recognized. The second pattern largely included late cortical cerebellar atrophy and hereditary ataxia of Holmes type. The third pattern was subdivided further into atrophies of the middle and superior cerebellar peduncles. The pattern of the former included olivo-ponto-cerebellar atrophy (OPCA) and hereditary ataxia of Menzel type, and the pattern of the latter included MJD and dentato-rubro-pallido-luysian atrophy (DRPLA). In the patients with OPCA and hereditary ataxia of Menzel type, increased signal intensity on T2-weighted image was always observed in the transverse pontine fibers, middle cerebellar peduncles. In several patients with MJD and DRPLA, atrophy of both cerebellar peduncles was demonstrated, but abnormal signal intensity was not observed in the pontocerebellar areas.
Rinsho Shinkeigaku 1993 Dec
PMID:[Clinical types of spinocerebellar degeneration and evaluation with MR imaging]. 817 28


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