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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The report contains data of a clinico-genealogical analysis of 450 observations of hereditary diseases of the nervous system, and the prevalence rates of neurohereditary diseases in the Kuibyshev region. The authors stress the significance of the founder effect as a factor lying at the basis of a concentration of autosome-dominant forms in some of the areas of the region. The role of increased inbreeding in the enlargement of the amount of autosome-recessive forms is being confirmed. The results of the study denote that in the population of the studied region the group of nervous-muscular hereditary diseases is most frequent. The main neurohereditary diseases are being clinically defined with an indication of the type of hereditary transmission. The authors underline the significant clinical intra- and inter-familial polymorphism of such diseases as the Charcot-Marie-Tooth neuronal amyotrophy, scapulohumeral-facial myopathy of Landusi-Dejenrinne, primary pelvic-humeral progressive muscular dystrophy, autosoma-dominant myatrophic ataxia, myotonic dystrophy. The authors indicate the necessity of a screening of patients with hereditary diseases of the nervous system.
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PMID:[Clinico-genalogic characteristics of hereditary diseases of the nervous system in the Kuibyshev region]. 15 55

Neurologic complications may appear before the primary disease, alcoholism, is recognized. The common syndromes are polyneuropathy, the withdrawal syndrome and the combination of Wernicke's encephalopathy and Korsakoff's psychosis. Other conspicuous clinical pictures include ataxia of cerebellar origin, convulsions, acute hallucinosis, myopathy and coma. Rarer disorders are Marchiafava-Bignami disease and central pontine myelinolysis.
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PMID:The neurologic complications of alcoholism. 18 91

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

Eight patients representing five different, probably hereditary neurological syndromes with oligophrenia and hypogonadism as the common features have been examined clinically and endocrinologically. Two sisters suffered from polyneuropathy, one male from ataxia, one male from spastic tetraplegia, two sisters and a brother from myopathy and one male patient from epilepsy and polyneuropathy. The latter patient was diagnosed as having an acute intermittent porphyria. All the patients had degenerative neurological disorders. The karyotypes were normal. The patients all had signs of hypogonadism. Four male patients had marked testicular atrophy but otherwise normal external genitalia. The testosterone levels in the blood were normal or slightly decreased. Three of the females had their menarche at a normal age but a very early menopause. The fourth female has never menstruated. The four females had normal breasts and body hair. All patients had high basal luteinizing hormone (LH) and follicle-stimulating hormone levels and the response to i.v. LH-releasing hormone was exaggerated. The prolactin values were normal. None of the examined patients had any signs of thyroid or adrenal insufficiency and the sella turcica was normal. A possible etiology to their hypergonadotropic hypogonadism is discussed.
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PMID:Hypergonadotropic hypogonadism in oligophrenia. 68 19

In the past few years several syndromes have been associated with lesions of the human mitochondrial DNA. MtDNA is a small, circular extra-nuclear chromosome encoding essential components of the respiratory chain. MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or "pure" encephalopathies with no gross morphological abnormalities in muscle. The first group includes myoclonic epilepsy with ragged-red fibres (MERRF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO) and a new entity, maternally inherited myopathy and cardiomyopathy. The second group includes Leber's Hereditary Optic Neuroretinopathy (LHON) and the newly described ataxia-retinitis pigmentosa-dementia complex. Three kinds of molecular lesions have been identified: point mutations of protein encoding mtDNA-genes (similar to yeast mit- mutations); point mutations of mtDNA-tRNA genes (similar to yeast syn- mutations); and large-scale rearrangements of mtDNA (similar to yeast rho- mutations). In general, "mit-" mutations are responsible for non-RRF encephalopathies, while "syn-" and "rho-" mutations are associated with mitochondrial encephalomyopathies with RRF. Furthermore, point mutations (mit- and syn-) are usually maternally- inherited, while large-scale mtDNA rearrangements are either sporadic or inherited as mendelian traits. In most cases, the molecular detection of the known defects of mtDNA can be carried out by non-invasive techniques, thus making it an easy and relatively inexpensive procedure in the differential diagnosis of the mitochondrial disorders, a rapidly expanding area of clinical neurology.
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PMID:Defects of mitochondrial DNA. 134 53

Mitochondrial disorder is an inborn error of metabolism affecting the cellular respiratory chain. Defective energy production leads to a wide variety of clinical manifestations (ataxia, epilepsy, dementia, myopathy, polyneuropathy, retinal pigment anomalies, and cardiomyopathy with conduction anomalies). Hearing loss is a regular feature and is often the first clinical symptom. Audiologic data from 26 members of a family in three generations is presented. One of these patients was examined for the biochemical error. Respiratory study of muscle biopsy revealed a mild defect in the NADH-ubiquinone oxidoreductase step of the oxidative phosphorylation (complex I). The content of cytochrome aa3 (complex IV) was also reduced. Adult onset sensorineural hearing loss starting in the high frequency region progresses with a fairly constant speed in this family. A cochlear type of hearing loss is found in the less pronounced cases. Advanced cases present features of retrocochlear affection with decreasing speech recognition, elevated acoustic reflex thresholds, and increased ABR latency with derangement of potentials. Caloric sensitivity was unaffected.
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PMID:Audiologic findings in a family with mitochondrial disorder. 180 40

Thirteen patients with mitochondrial cytopathy were investigated. They represent different generations, ages, stages, and severities of the disease. All were assumed to have the same metabolic defect. The disease is a multisystem disorder with a metabolic defect located at complex 1 in the respiratory chain. Clinically, the disorder gives symptoms such as hearing loss, retinal pigmental degeneration, ataxia, cardiomyopathy, muscular fatiguability and neuropathy. The patients were investigated with nerve conduction studies, concentric needle EMG, SFEMG, and macro EMG examinations. Neurophysiologic studies revealed signs of myopathy in both the younger members and in those with slight muscular symptoms. In the more advanced stages, neuropathic changes of the axonal type were seen as well. Macro EMG was interpreted as indicating muscle fiber membrane abnormalities in the early stages. Single fiber EMG studies indicate that this metabolic defect does not disturb neuromuscular transmission.
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PMID:Nerve-muscle involvement in a large family with mitochondrial cytopathy: electrophysiological studies. 184 37

Defects of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation are important causes of disease. Defects of pyruvate dehydrogenase may present in early childhood with severe CNS changes or, as lactic acidosis or later with ataxia. Defects of fatty acid oxidation may present with hypoglycaemic coma, myopathy, liver disease with encephalopathy, cardiomyopathy or sudden infant death. The investigation of both these groups of disorders is difficult and depends upon a combination of biochemical and molecular biology techniques.
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PMID:Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation. 196 58

Dantrolene, a drug used in the prevention and treatment of malignant hyperthermia, was believed responsible for prolonged postanesthetic recumbency in a horse. Prophylactically, dantrolene was given orally before induction of anesthesia. Dantrolene has been recommended for use in horses at risk of developing postanesthetic myopathy. Side effects, including ataxia, may result from dantrolene administration.
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PMID:Prophylactic use of dantrolene associated with prolonged postanesthetic recumbency in a horse. 224 40

The authors report the case of a 14-year-old boy who presented with shunted growth and low weight gain, asthenia with fatiguability on effort, clinical signs of myopathy, ataxia, epilepsy, deafness, loss of visual acuity and reduced intellectual capacities. Muscle biopsy revealed numerous ragged-red fibres and mitochondrial anomalies at ultrastructural examination. Cerebral biopsy showed spongiform changes. Both muscular and cerebral biopsies showed vascular lesions: swollen endothelial cells. Mitochondria increased in number with concentric whorls of cristae were observed in pericytes and smooth muscle cells. This mitochondrial vasculopathy could explain the neurological symptoms.
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PMID:[Muscle and brain biopsy in a case of mitochondrial encephalomyopathy. Demonstration of a mitochondrial vasculopathy]. 238 1


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