Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tick-borne encephalitis is transmitted by the tick ixodes ricinus. After the second world war an increase in the number of cases of encephalitis was observed and the neurotropic virus was isolated for the first time in 1948. Reservoir animals are mouse-like wild animals and also agricultural domestic animals. The infection is transmitted to humans through tick bites. It becomes apparent subjectively in headaches, vomiting, tiredness, giddiness and insomnia, and objectively in meningeal symptoms, extrapyramidal tremor, cerebellar ataxia, vestibular nystagmus and paresis. The treatment consists of strict rest in bed for 10 days at least and symptomatic support of the general health. Good results are obtained with antiedematous therapy with hydrocortisone or pyritinol.
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PMID:[Clinical picture of Central European tick-borne encephalitis (author's transl)]. 82 10

Cerebrotendinous xanthomatosis (CTX) is a rare recessive inherited lipid storage disease that was first described by Van Bogaert. Although the principal clinical presentation affects the nervous system with dementia, spinal cord paresis, cerebellar ataxia and peripheral neuropathy, the liver is is the organ where the major biochemical abnormalities are expressed. The following sections deal with the pathogenesis and treatment of the biochemical problems in CTX.
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PMID:Biochemical abnormalities in cerebrotendinous xanthomatosis. 181 43

Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, cerebellar ataxia, spastic paresis, and dementia. Though electroencephalographic (EEG) abnormalities are frequent in CTX, epileptic seizures have not been recognized as a major feature. A CTX patient is reported who presented with a generalized epileptic seizure and was evaluated with EEG and neuropsychological testing. Epilepsy should be considered a feature of CTX, and CTX considered as a possible, though rare, cause of symptomatic seizures.
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PMID:Epileptic seizure as a presenting symptom of cerebrotendinous xanthomatosis. 191 72

The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and cholestanol in multiple tissues. Deposition in the central nervous system leads to neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia. Deposition in other tissues causes tendon xanthomas, premature atherosclerosis, and cataracts. In two unrelated patients with CTX, we have identified different point mutations in the gene (CYP27) encoding sterol 27-hydroxylase, a key enzyme in the bile acid biosynthesis pathway. Transfection of mutant cDNAs into cultured cells results in the synthesis of immunoreactive sterol 27-hydroxylase protein with greatly diminished enzyme activity. We have localized the CYP27 gene to the q33-qter interval of human chromosome 2, and to mouse chromosome 1, in agreement with the autosomal recessive inheritance pattern of CTX. These findings underscore the essential role played by sterols in the central nervous system and suggest that mutations in other sterol metabolizing enzymes may contribute to diseases with neurological manifestations.
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PMID:Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 201 2

Twenty eight patients with the clinical diagnosis of idiopathic late onset cerebellar ataxia were examined clinically and by magnetic resonance imaging (MRI) or computed tomography (CT). In addition, the clinical records of all patients were analysed retrospectively. On the basis of their clinical presentation they were subdivided into patients with a pure cerebellar syndrome (n = 9) and patients with a cerebellar syndrome and additional non-cerebellar symptoms (n = 13). No attempts were made to classify patients with a disease duration of less than four years (n = 6) because the retrospective analysis showed that the disease started almost invariably with a pure cerebellar syndrome and additional symptoms came later. Patients with a lasting pure cerebellar syndrome had a significantly better prognosis than patients with additional non-cerebellar involvement (annual progression rate rate: 0.40 versus 0.80). Calculated median lifetime from onset of symptoms was 20.7 years in patients with a pure cerebellar syndrome and 7.7 years in patients with additional non-cerebellar symptoms. Among the latter, disease progression was faster the earlier non-cerebellar symptoms occurred. All of them presented with Parkinsonian symptoms, whereas bulbar symptoms, vertical gaze paresis, pyramidal deficits, dementia and urinary incontinence were encountered less frequently. MRI or CT showed cerebellar atrophy without apparent involvement of brainstem structures in all patients with a pure cerebellar syndrome suggesting the diagnosis of cerebellar cortical atrophy (CA). The majority of the patients with additional non-cerebellar symptoms had evidence of an atrophy of the cerebellum and the brainstem suggesting the presence of olivo-ponto-cerebellar atrophy (OPCA). In two of them, however, MRI morphology was not compatible with the diagnosis of OPCA.
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PMID:Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology. 234 43

A large Japanese family with probable Machado-Joseph disease (MJD) is described. Detailed neurological examination in 12 patients from 3 generations revealed variable combinations of cerebellar ataxia, ocular paresis, difficulty in eye-lid opening, bulging eyes, facial "myokymia", facial dystonia, pyramidal signs, extrapyramidal signs, and peripheral neuropathy. Mode of inheritance was in all likelihood autosomal dominant. Blood components were typed for 19 conventional chromosome markers. Although association of the affected members with the PGM1 system was high, linkage analysis failed to reveal any markers studied with a lod score higher than 3. The unique constellation of symptoms appeared sufficient to rule out other types of spinocerebellar degeneration. When there is a typical case in a given family, MJD appears to be a clinically recognizable entity.
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PMID:A large Japanese family with Machado-Joseph disease: clinical and genetic studies. 271 40

A case of intracranial multiple fibrous histiocytom is arising from the dura mater and both lateral ventricles is presented. To the authors' knowledge, this is the ninth case of intracranial fibrous histiocytomas reported in the literature. A 10-year-old girl was admitted with a 6 month history of cerebellar ataxia. Radiological examination including CT scan revealed a large mass in occipito-suboccipital region. On November 1, 1978, subtotal resection of the tumor was performed. Yellowish hard tumor, weighing 195 g had wide attachment to the dura mater, but did not invade the brain tissue. Postoperative CT scan, three months later revealed the other tumors in the left lateral ventricle and in the suprasellar region in addition to the lesion that had been operated on. In the course of hospitalization, the suprasellar tumor enlarged rapidly despite of 60Co radiation therapy, then led her to hypothalamic dysfunction. In January, 1981, she had paraplegia and paresis of the right upper extremity. Spinal lesion at the level of C-5 was presumed, but further examination was not performed because of her poor condition. On February 19, 1981, she expired. Autopsy of the head revealed four independent lesions in both lateral ventricles, the suprasellar region and the residual lesion which had been resected subtotally at the operation, respectively. Entire falx cerebri was invaded continuously by the tumor in occipito-suboccipital area. Microscopically, all tumors were identical in histology and were composed of spindle shaped cells with storiform pattern, foam cells and rare giant cells. Any mitotic figures were not detected. Clinical behavior was aggressive but histological figures suggested fibrous histiocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of intracranial multiple fibrous histiocytoma. Case report and review of literature]. 608 79

Pontine gliomas have been considered to be out of indication for operative treatment. However, in case of a cystic type, evacuation of the cyst alone can possibly extend the survival time of the patient. Since the advent of high resolution CT the nature of the pontine tumor, whether cystic or solid, can be easily differentiated, and cystic ones subjected to operation will be increasing in number. We report a case of cystic pontine glioma associated with von Recklinghausen's disease. The patient showed a remarkable improvement in her neurological status after evacuation of the cyst. A 16-year-old girl was admitted to our clinic with complaints of tinnitus and hearing difficulty of the left ear, progressive gait disturbance and double vision. Neurological examination revealed a sensory disturbance on the left side of the face, left abducens palsy, left facial paresis, left deafness, left cerebellar ataxia, right hemiparesis and right hemisensory disturbance excluding the face. Signs and symptoms of increased intracranial pressure were absent. There were many cafe-au-lait spots and several subcutaneous nodules. CT scan demonstrated a cystic lesion with a mural nodule in the left cerebello-pontine angle. The patient underwent left suboccipital craniectomy, and a puncture of the cyst between the trigeminal and facial-acoustic nerves which were displaced dorsally yielded yellowish fluid. The content of the cyst was evacuated and its wall was widely opened. After the operation the patient showed a remarkable improvement in her neurological deficits only with left deafness remained unchanged. Histological examination showed anaplastic astrocytoma. She was discharged after irradiation of 5000 rads.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cystic pontine glioma associated with von Recklinghausen's disease--report of a case]. 643 42

Disulfiram is known to produce toxic encephalopathy and peripheral neuropathy. The case of a 37-year-old alcoholic who attempted to commit suicide by taking 22.5 g disulfiram is described. During the first 6 days after the intoxication he was stuporous and had cerebellar ataxia and dysarthric speech. Then he became comatose, and as he recovered from coma, he showed peripheral neuropathy including diplegia faciei and severe tetraparesis. Denervation potentials were detected in both facial muscles and distal muscles of the upper and lower limbs, while conduction velocity was normal. Axonal degeneration was verified by sural nerve biopsy. In addition neurofilamentous axonopathy was documented. The recovery from his paresis lasted 2 years.
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PMID:[Polyneuropathy caused by disulfiram poisoning]. 686 Jan 22

Encephaloceles were diagnosed in 39 patients over a 40-year interval from 1940. Thirty-three encephaloceles were located in the occipital region, 3 in parietal, 1 in glabellar, 1 in sphenomaxillar and 1 in intracranial. Nineteen patients were males and 20 were females. Eleven of 39 patients were dead. In 33 patients the encephalocele was excised and two died within a month after operation. Four patients expired within a year and other four died before the age of 4 years. Eleven of dead cases were meningoencephaloceles or meningoencephalocystoceles except one. In 6 of them the size of encephalocele was larger than 5 cm in diameter. Twenty-six patients survived 6 months fo 34 years. Six of them found to be severely retarded psychosomatically. Twenty others spend normal lives. Eldest patient whose occipital meningoencephalocele sized 4.5 cm in diameter was excised in 1945 works in a automobile dealer's shop as a car operator after graduation of a junior high school. He has two children, as well. Two patients are graduates of a high school, one a college and one a junior high school. Other patients of school age attend ordinary classes of each school with or without minimal handicaps such as paresis of one leg, unilateral visual loss, slight cerebellar ataxia, large head size and so on. Two of these 20 patients who are found to be in good state had encephaloceles larger than 5 cm in diameter, but other 18 smaller than 5 cm. Eleven of them were meningoceles. Four of 6 patients who had anterior or parietal encephalocele were found to have no neurological sequelae. Significant adverse prognostic factors were the presence of brain tissue within the sac of lesion and the size of it. However, hydrocephalus did not effect the quality of survival of our patients.
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PMID:[The prognosis of encephaloceles (author's transl)]. 724 98


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