Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 14-year-old boy with ataxia-telangiectasis died of pneumonia, stomach cancer and its diffuse metastasis. The onset of walding gait was noticed from 3 years of age. Immune globulin including IgA was normal or slightly increased. Main autopsy findings were: old cancerous ulcer of 1.4 X 2.3 cm at the lesser curvature, and diffuse cancer infiltration over ulcer surface to serous membrane. The tumor was diagnosed histologically as adenocarcinoma tabulare mucocellulare.
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PMID:Stomach cancer of a 14-year-old boy with ataxia-telangiectasia. 19 57

The effects of weekly doses of transfer factor in four patients with ataxia--telangiectasia were investigated following a total course of 2 months therapy. Transfer factor administration showed no influence on the absolute lymphocyte counts, T-cell rosettes or antibody titres to EBV, but it caused conversion of skin-test reactivity and production of MIF to various antigens. There was a dissociation in blastic transformation response, the skin-test responses and MIF production. Serum interferon levels were low before, and 2, 6 and 24 hr after, therapy. Clinically no improvement in infections was observed following transfer factor therapy.
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PMID:Transfer factor therapy in ataxia--telangiectasia. 20 9

An experimental neuropathy was induced in cats by injections of acrylamide (7.5, 15 or 30 mg/kg/day) for 2 to 10 days. The responses of primary and secondary endings of soleus muscle spindles to stretch were evaluated and correlated with the appearance of ataxia and incoordinated motor movements. Animals that received 15 or 30 mg/kg/day became ataxic and demonstrated poor motor coordination on the 7th or 4th day, respectively. At these times, both primary and secondary endings of muscle spindles had elevated thresholds and diminished discharge frequencies. Continued acrylamide administration resulted in exacerbation of the clinical symptoms and further attenuation of spindle responses. The discontinuation of acrylamide was followed by slow recovery. Only those cats which received a total dose of 75 mg/kg or less remained asymptomatic and had normal spindle function. The coincidence of onset of motor coordination deficits and spindle dysfunction, coupled with a lack of demonstrable motor defect at the same time, suggests that the initial clinical features of acrylamide neuropathy may be partly the consequence of impaired spindle function.
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PMID:Position sensitivity of de-efferented muscle spindles in experimental acrylamide neuropathy. 20 69

A systematic study of plasma lipids and lipoproteins was carried out in 11 cases of Friedreich's ataxia and 6 cases of familial spastic ataxia (Charlevoix-Saguenay disease) using 11 healthy normolipidemic volunteers of comparable age and sex as controls. No differences were noted in the fatty acid profile of the total lipid fraction, in the total cholesterol and phospholipids or in the percentage distribution of the individual phospholipid classes. The triglycerides were significantly higher in Friedreich's ataxia, but remained within the normal range. Although no systematic abnormalities could be detected in the electrophoretic pattern of plasma lipoproteins or in the apolipoprotein profile on polyacrylamide gel electrophoresis, major differences were found in the high density lipoprotein (HDL) fraction. Their total amount was reduced and their composition was abnormal in both neurological diseases. In Friedreich patients, the relative proportion of cholesterol and triglycerides was increased while the relative protein content was greatly reduced. In Charlevoix disease, a similar abnormality was seen except for the excess of triglycerides. The proportion of phospholipids in HDL was the same in the three groups of patients. In addition, the low density lipoprotein (LDL) fraction was slightly reduced in both diseases. This anomaly of the HDL fraction could indicate that the HDL apolipoprotein moiety has a greater affinity for cholesterol and triglycerides in Friedreich's ataxia than its normal counterpart.
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PMID:Plasma lipids and lipoproteins in Friedreich's ataxia and familial spastic ataxia--evidence for an abnormal composition of high density lipoproteins. 20 32

Two brothers with a new type of hereditary sensory neuropathy are described. The main clinical feature is late onset sensory ataxia without ulcerating acropathy or other autonomic abnormality. The older patient also has oculomotor dysfunction and extensor plantar responses.
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PMID:Hereditary sensory neuropathy, a new type. 20 9

An aortic body tumour in a 7-year-old wire-haired fox terrier with hind limb ataxia is described. A metastatic lesion in the dorsal arch of the eighth thoracic vertebra caused compression of the spinal cord. Radiographic techniques are discussed that enabled the position and extent of the primary tumour and its metastasis to be defined and allowed a provisional diagnosis of chemodectoma.
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PMID:Spinal cord compression caused by a metastatic lesion from an aortic body tumour. 21 Jul 56

Male albino rats treated with excessive amounts of pyridoxine developed an impairment of neuromuscular function. The equatorial region of the plantar lumbrical intrafusal muscle fibres was studied in the electron microscope and the calibre of the nerve fibres was determined in semi-thin sections of the posterior tibial nerves. Degeneration of the primary sensory endings coincided with the onset of ataxia, and in more advanced stages of the neuropathy as well as after a 2-month treatment-free period the equatorial region was denervated. There was a corresponding decrease in the number of large nerve fibres. It is considered essential that primary sensory endings of lumbrical muscle spindles should be included in studies of distally accentuated sensory neuropathies.
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PMID:Sensory denervation of the plantar lumbrical muscle spindles in pyridoxine neuropathy. 21 86

The purpose of this paper is to describe 2 siblings who had a generalized neurological disease which presented as intestinal pseudoobstruction. The siblings had 40-year histories of abdominal pain, distention, and vomiting as well as gait ataxia, small, irregular, poorly reactive pupils, dysarthria, absent deep tendon reflexes, and impaired vibratory and position senses. Compared with age-matched controls, they had inappropriate blood pressure responses to phenylephrine, the Valsalva maneuver, and upright posture, lack of sweating on warming, and pupillary denervation hypersensitivity. Radiographs revealed hyperactive, nonpropulsive contractions of a dilated esophagus and small intestine and extensive colonic diverticulosis. Esophageal manometry recorded repetitive, spontaneous, nonperistaltic waves and positive Mechyolyl tests. Postmortem examinations showed degeneration of the myenteric plexuses of the esophagus, small intestine, and colon of both patients. Myenteric plexus neurons were significantly reduced in number compared with 7 controls. About one-third of the siblings' neurons contained round, eosinophilic intranuclear inclusions, which, by histochemistry, were composed of protein by lacked RNA, DNA, carbohydrate, and fat. By electron microscopy the inclusions consisted of an irregular array of nonviral, nonmembrane-bounded filaments. Neurons and glial cells of the brain, spinal cord, dorsal root, and celiac plexus ganglia contained identical intranuclear inclusions. Intestinal smooth muscle was normal. These 2 siblings represent a unique disease in which degeneration of the myenteric plexus resulted in hyperactive but uncoordinated smooth muscle activity and the clinical syndrome of intestinal pseudoobstruction, the presenting manifestation of their neurological disease.
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PMID:A familial neuronal disease presenting as intestinal pseudoobstruction. 21 42

Unilateral ataxia of the head and trunk and right-sided paralysis of the trigeminal, facial, and hypoglossal nerves were the major neurologic dysfunctions in a nine-year-old male French bulldog. These symptoms together with the results of radiologic examination and bone scintigraphy pointed to a cranial base tumour on the right side. The tumour was histologically identified as a glomus jugulare tumour. A tumour of the right carotid body and a seminoma in the right testicle were additional findings at autopsy.
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PMID:Glomus jugulare tumour in a dog; a case report. 21 42

The syndrome described by M. Fisher in 1956 includes ophtalmoplegia, ataxia, and generalized loss of reflexes. It is classically considered to be of peripheral origin and its relation to Guillain and Barre's syndrome in its mesencephalic form is debatable. The authors review 5 cases and discuss the question of a probable central origin. They base their opinion on the pathognomonic features of these cases and those in the literature, as well as the results of their oculographic and electromyographic studies. They stress the importance of the nature of the ataxia; the severe equilibrium disturbances noted in these patients could result, contrary to usual thinking, more from a central vestibular syndrome than from a cerebellar lesion.
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PMID:[Fisher's syndrome. Peripheral or central origin (author's transl)]. 21 38


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