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)

Superoxide dismutase (EC 1.15.1.1) and catalase (EC 1.11.1.6) are important enzymes involved in protection of the cell from harmful effects of oxidative degradation. The respective substrates for these enzymes, superoxide anion and hydrogen peroxide, can be generated within the cell either by normal metabolism or by ionizing radiation. The hypothesis that the inherent radiosensitivity associated with the human autosomal recessive disease Ataxia telangiectasia is due to decreased levels of SOD and/or catalase was tested. The results suggest that fibroblast cells derived from ataxia patients are normal with respect to these two enzymes.
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PMID:Superoxide dismutase and catalase activities in Ataxia telangiectasia and normal fibroblast cell extracts. 48 42

A patient with progressive signs and symptoms suggestive of a pontine lesion is described. Intracranial investigations, CAT scan, vertebral angiography, and lumbar pneumoencephalogram revealed a space-occupying lesion of the pons and midbrain. The exact nature of the lesion was not established before the operation. A posterior fossa exploration was performed and a pontine haematoma was discovered and evacuated. The pathological specimen was designated as a cryptic arteriovenous malformation. Preoperative neurological deficits disappeared except for minimal left sixth nerve palsy and mild truncal ataxia.
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PMID:Successful removal of an intrapontine haematoma. 50 71

Intrinsic brainstem gliomas carry the worst prognosis of all pediatric CNS tumors; only 10-25% of patients are expected to survive for more than two years. Over a period of four years seven intrinsic brainstem gliomas were diagnosed in children in one institution. Four of them underwent a rapidly fatal course, whilst one was diagnosed only two years ago, which is too recent for long-term evaluation. We report the case histories of the remaining two boys, who showed a favorable course of their disease. Presenting symptoms were headaches and signs of brainstem dysfunction with multiple bilateral cranial nerve palsies, ataxia and pyramidal tract signs. Diagnosis rested on neuroimaging (CAT scans and/or MRI scans). Both tumors were intrinsic brainstem gliomas, one diffuse and the other focal. They responded to treatment (radiotherapy and chemotherapy in the former patient and radiotherapy alone in the latter patient). The two boys became long-term survivors and have remained well, without evidence of disease, for more than 71 and 61 months, respectively, after completion of treatment. They are probably cured. Prompt therapy with curative intention is recommended, with consistent adherence to the chosen antitumor regimen even in poor-risk brainstem gliomas.
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PMID:Long term remission of intrinsic brainstem gliomas: the case reports of two children. 189 32

A 5-year-old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very-long-chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis.
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PMID:Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis. 217 32

The clinical course of herpes zoster associated encephalitis (HZAE) with special emphasis on the treatment with acyclovir is described from the experience in 14 own patients and 47 review cases. Immunosuppression and dissemination involved increased risk of HZAE, whereas cranial zoster implied no or only a slightly increased risk. The symptoms were mainly disturbances of mental function and ataxia. Nuchal rigidity was noted in approximately one third of cases. The median duration from dermatomal lesion to HZAE was 15 days in immunosuppressed patients versus 5 days in non-immunosuppressed patients. Abnormal spinal fluid findings included mononuclear pleocytosis, occasionally with low glucose concentration. Protein was elevated in half of the patients. Serum sodium levels were often low. Brain CAT scans were generally normal and EEGs always abnormal. Recurrence of HZAE was noted in 2 patients. Treatment with acyclovir seemed to have a beneficial effect. The results, however, need cautious interpretation due to the heterogenous patient material. Two patients developed signs of HZAE while on treatment with desciclovir but recovered during ongoing therapy.
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PMID:Herpes zoster associated encephalitis: clinical findings and acyclovir treatment. 322 75

Primary amebic meningoencephalitis and granulomatous amebic encephalitis are well recognized clinicopathological entities caused by free-living amebas. Associated arteritis and "mycotic aneurysms" with infiltration of intracranial arteries by lymphocytes, amebic trophozoites and cysts have not been previously reported. A 26-month-old girl had a 3-week history of encephalitis, characterized, initially, by vomiting and low-grade fever. Subsequently, she developed ataxia, generalized weakness, lethargy, and esotropia. The first CSF showed 490 RBC/microliters, 705 WBC/microliters with 90% mononuclears. Her pupils reacted briskly to light. Moderate nuchal rigidity, nystagmus, fixed downward gaze, anisocoria, bilateral 6th nerve palsy, left arm monoparesis and left Babinski were present. CAT scan revealed slight symmetrical dilatation of anterior horns of lateral ventricles and an area of abnormal enhancement above the 3rd ventricle. She died 14 days after admission, 5 weeks after onset of symptoms. The brain showed focal necrotizing encephalopathy, involving thalami, cerebellum, brain stem, and cervical and upper thoracic spinal cord. Numerous free-living amebic trophozoites and cysts were present within a chronic granulomatous encephalitis. There were trombosis of basilar, posterior cerebral, and vertebral arteries with profuse chronic panarteritis, fibrinoid necrosis, and mycotic aneurysms.
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PMID:Granulomatous encephalitis, intracranial arteritis, and mycotic aneurysm due to a free-living ameba. 689 86

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant progressive neurodegenerative disorder characterized by ataxia, dysarthria, ophthalmoparesis, and variable degrees of amyotrophy and neuropathy. Symptoms usually develop in the third or fourth decade but anticipation has been noted in juvenile onset cases. Neuropathologic findings include severe neuronal loss in the cerebellum and brainstem as well as degeneration of spinocerebellar tracts. The SCA1 gene which maps to the short arm of human chromosome 6 was identified using a positional cloning approach. The disease causing mutation is an expansion of a CAG trinucleotide repeat which lies within the coding region of a novel protein, ataxin-1, and encodes a polyglutamine tract. The number of CAG repeats varies from 6-39 repeats on normal alleles and 40-81 repeats on SCA1 alleles. The repeat has a perfect CAG configuration on expanded alleles whereas it is interrupted by 1-3 CAT units on normal alleles. Both wild type and expanded alleles are transcribed, ruling out impairment of transcriptional efficiency in SCA1. A pathogenetic model is proposed based on the findings in SCA1 and other neurodegenerative diseases caused by expansion of polyglutamine tracts. The expanded polyglutamine tract in ataxin-1 may lead to neurodegeneration through a gain of function mechanism involving aberrant interactions with other molecules in the involved neurons.
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PMID:Spinocerebellar ataxia type 1. 761 95

Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disorder characterized by ataxia, dysarthria and progressive bulbar dysfunction. The SCA 1 gene which maps to the short arm of chromosome 6 has been isolated using a positional cloning approach. The SCA1 transcript is 10660 bases and encodes a novel protein, ataxin-1, with a predicted molecular weight of 87 kDa. Expansion of a CAG repeat localized near the amino terminus of ataxin-1 has been found to be the mutational mechanism in SCA1. This CAG repeat is highly polymorphic with normal alleles containing 6-39 repeats. Individuals affected with SCA1 have one normal allele and one expanded allele containing 40-81 repeats. The size of the repeat correlates inversely with the age of onset of symptoms and the severity of disease. The repeat is a continuous CAG repeat tract on SCA1 chromosomes whereas in > or = 98% of normal alleles one or more CAT interruptions break the CAG repeat tracts into two tracts containing less than 18 repeats each. This suggests that loss of CAT interruptions within the SCA1 CAG repeat on normal chromosomes leads to triplet instability.
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PMID:Spinocerebellar ataxia type 1. 762 Jan 19

The livers of 13 Sika deer (Cervus nippon Temminck) aged 4 to 9 years and suffering from copper deficiency (enzootic ataxia) were examined histologically, histochemically and by electron microscopy. In addition, the serum and liver copper concentrations, measured in three animals, were found to be low. Histologically, the hepatocytes exhibited cloudy swelling, and numerous haemosiderin deposits were seen in the hepatocytes and Kupffer cells. Staining with p-dimethyl amino-benzylidene-rhodamine revealed distinctly fewer copper granules than normal. Histochemically, 3,3'-diaminobenzidine-H2O2 staining revealed increased numbers of catalase-positive granules around nuclei. Electron microscopically, "giant" and bizarre-shaped mitochondria, irregular depression of the mitochondrial membrane, and fusion of cristae were noted. Disorders of copper-containing enzymes, including cytochrome oxidase, caeruloplasmin and monoamine oxidase, may have been responsible for the mitochondrial abnormalities.
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PMID:Ultrastructure of hepatocytes in copper-deficient Sika deer (Cervus nippon Temminck). 876 86

The alpha-tocopherol transfer protein (alpha-TTP) is a cytosolic liver protein that is presumed to function in the intracellular transport of alpha-tocopherol, the most biologically active form of vitamin E. We studied 4 unrelated patients with autosomal recessive Friedreich-like ataxia who had isolated vitamin E deficiency. A point mutation was identified in all of them at position 101 of the gene for alpha-TTP, where histidine (CAT) was replaced with glutamine (CAG). Three of the 4 patients developed retinitis pigmentosa subsequent to the onset of ataxia. Neurological symptoms included ataxia, dysarthria, hyporeflexia, and decreased proprioceptive and vibratory sensations. Electrophysiological and pathological examinations showed that the cardinal sites affected were the central axons of dorsal root ganglion cells and the retina, with minor involvement of the peripheral sensory nerve, optic nerve, and pyramidal tract. The vitamin E tolerance test performed showed that the absorption of vitamin E was normal but that its decrease from the serum was accelerated. Oral administration of vitamin E appeared to halt the progression of visual and neurological symptoms. We propose a new treatable syndrome of Friedreich-like ataxia and retinitis pigmentosa caused by a defect in the alpha-TTP gene.
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PMID:Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene. 948 73


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