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)

Three weeks after a mild and presumably infectious illness, a 21-year-old man developed a CNS disorder characterized by involvement of the cerebellum, cerebrum, and brainstem. It progressed, sometimes stepwise, without remission, over five months to being bedfast with total spastic paraplegia, severe ataxia, and unintelligible dysarthric speech. The CSF showed increased levels of protein, IgG, and myelin basic protein, as well as five oligoclonal bands. Because of failure of the patient's condition to respond to prolonged prednisone therapy, poly ICLC was given intravenously weekly for 20 weeks (median dose, 100 microgram/kg). Improvement, evident after the first dose, progressed to the point of ambulation with some assistance. Even though the relation of the patient's marked recovery to poly ICLC therapy remains unproved, this experience provides reason for considering a possible therapeutic role of the drug in postinfectious demyelinating encephalomyelitis and perhaps in multiple sclerosis.
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PMID:Poly ICLC in the treatment of postinfectious demyelinating encephalomyelitis. 723 70

57 cases of multiple sclerosis was seen from 1949-1979, an incidence of 935 per 100,000 neurological admissions, and 0.04 per 100,000 inpatient admissions. There was a sex ratio of 1:1.1, and a mean age of 33 years. The mean duration of illness was 31 months. It is striking that in 47% the initial affliction was visual impairment (62% being bilateral). Motor paralysis, chiefly paraplegia (37%) was also frequent. However, initial diplopia, vertigo and ataxia were uncommon. Aside from these variations the clinical picture of multiple sclerosis is essentially the same as seen in the West. The EEG changes were nonspecific without definite correlations with age, sex, occupation, birthplace, age at admission, age at onset, duration of illness, mode of onset and clinical manifestations. Active cases presented more abnormal records thant quiescent cases. More abnormal records were obtained in cases with remissions and relapses than those running a progressive course. The EEG, especially with serial studies, is helpful in depicting cortical dysfunction in multiple sclerosis at an early stage of the disease. A normal tracing does not exclude structural damage inasmuch as submicroscopic and substructural physiochemical changes might not be sufficiently severe to cause alteration in electrical activity recorded from the convexity of the cerebral hemispheres.
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PMID:Clinico-electroencephalographic studies of multiple sclerosis. 734 1

Clinical results of spinal cord stimulation by means of epidural electrodes are reported in 19 patients with multiple sclerosis. On temporary stimulation with percutaneous electrodes, significant improvement in mobility occurred in 27.7% of 18 patients and the same number showed improved sensory function. Only one of 13 patients with severe upper limb ataxia improved. The major response, both in terms of the percentage of patients responding and the extent of the responses seen was in bladder function: 75% of 16 patients with bladder symptoms improved and seven of the 11 patients with severe bladder disturbance (Kurtzke grade 3 or more) improved. Four of these seven patients had before and after cystometry and 3 showed reduced detrusor hyperreflexia. Altogether, 10 patients had a worthwhile clinical response in one or more aspects of the disease and of these, nine have so far gone on to permanent stimulation. Medium-term results (up to two years) show that, with one exception, improvement in bladder function has been maintained as long as stimulation has been continued and at least 50% of improvement in mobility has been maintained. A favourable response depends not upon the fact of stimulation but upon the type of stimulation received. This, along with other evidence, indicates that the response is not caused either by a placebo effect or by the natural fluctuation of the disease.
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PMID:Spinal cord stimulation in multiple sclerosis: clinical results. 735 51

Paroxysmal symptoms are described in 14 patients with undoubted or suspected multiple sclerosis (MS). In seven of the patients the paroxysms were the first symptom of the disease, although only one has developed definite MS so far. The clinical features have been compared with 153 patients previously reported in the literature which has been reviewed, with special reference to 36 in whom paroxysmal symptoms were the initial manifestations of MS. Attention has been focused on paroxysmal symptoms of brain stem and spinal cord origin of the following types: paroxysmal dysarthria and ataxia, diplopia, tonic seizures, paroxysmal akinesia, paroxysmal sensory disturbances and pains. Examples of each type have been reported as the first symptoms of MS with remissions ranging from less than one to 21 years before other manifestations of MS have developed.
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PMID:Paroxysmal symptoms as the first manifestations of multiple sclerosis. 737 30

A Danish pedigree with olivo-ponto-cerebellar ataxia, transmitted as an autosomal dominant trait through six generations, has been studied. Forty-nine individuals were affected, and the main signs were staggering, ataxic gait, dysmetria and dysarthria. Early symptoms were always imbalance and clumsiness. Clinical features varied greatly, and many types of heredo-familial ataxia had previously been assigned to the family members. Ten had been diagnosed as having multiple sclerosis (MS), although symptoms typical of MS, such as paresthesias, mental disturbances and optic atrophy were extremely uncommon. The variations in the clinical picture show that the manifestations of a single dominant gene may appear to mimic different clinical entities unless the genetic evidence is taken into account.
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PMID:Hereditary ataxia in a large Danish pedigree. 739 10

Cranial computerized tomography was carried out in 69 patients with cerebellar ataxia (45 with Friedreich's ataxia, 4 with Marie's spastic ataxia, 14 with cerebellar atrophy, and one patient with olivo-pontocerebellar atrophy). In CT scans cerebellar atrophy is found to be of various localisation and partially of characteristic distribution. CT, therefore, greatly helps to distinguish different types of cerebellar and spino-cerebellar atrophy and also distinguishes separate cerebellar atrophy of various origin from other diseases like multiple sclerosis.
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PMID:[Computerized tomography in atrophy of the posterior fossa (author's transl)]. 744 80

Cytokines are now recognized to play important roles in the physiology of the central nervous system (CNS) during health and disease. Tumor necrosis factor alpha (TNF-alpha) has been implicated in the pathogenesis of several human CNS disorders including multiple sclerosis, AIDS dementia, and cerebral malaria. We have generated transgenic mice that constitutively express a murine TNF-alpha transgene, under the control of its own promoter, specifically in their CNS and that spontaneously develop a chronic inflammatory demyelinating disease with 100% penetrance from around 3-8 weeks of age. High-level expression of the transgene was seen in neurons distributed throughout the brain. Disease is manifested by ataxia, seizures, and paresis and leads to early death. Histopathological analysis revealed infiltration of the meninges and CNS parenchyma by CD4+ and CD8+ T lymphocytes, widespread reactive astrocytosis and microgliosis, and focal demyelination. The direct action of TNF-alpha in the pathogenesis of this disease was confirmed by peripheral administration of a neutralizing anti-murine TNF-alpha antibody. This treatment completely prevented the development of neurological symptoms, T-cell infiltration into the CNS parenchyma, astrocytosis, and demyelination, and greatly reduced the severity of reactive microgliosis. These results demonstrate that overexpression of TNF-alpha in the CNS can cause abnormalities in nervous system structure and function. The disease induced in TNF-alpha transgenic mice shows clinical and histopathological features characteristic of inflammatory demyelinating CNS disorders in humans, and these mice represent a relevant in vivo model for their further study.
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PMID:Spontaneous inflammatory demyelinating disease in transgenic mice showing central nervous system-specific expression of tumor necrosis factor alpha. 747 82

Changes in sexual function in 47 women with advanced multiple sclerosis are described. Twenty eight (59.6%) of the women reported decreased sexual desire. Seventeen (36.2%) reported decreased lubrication. Five (10.6%) others did not know if they lubricated or not. Eighteen women (38.3%) reported diminished orgasmic capacity and six (12.8%) others had never had an orgasm. Sensory dysfunction in the genital area was experienced by 61.7% of the women and 76.6% had weakness of the pelvic muscles. Sixty six per cent had bowel problems and 89.4% had bladder dysfunction. The changes in sexual function correlated both with neurological symptoms from the sacral segments, such as weakness of the pelvic floor and bladder and bowel dysfunction, and to other symptoms such as ataxia and vertigo as well as with age and the occurrence of amenorrhoea. A significant correlation was found between expanded disability status scale (EDSS) score and cohabitation. Problems with sexual function were reported significantly more often by women with lower EDSS scores. Most women (83%) found the interview a positive experience.
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PMID:Sexual function in women with advanced multiple sclerosis. 760 15

A 23-year-old female developed progressive cerebellar ataxia as the only presentation of multiple sclerosis for 6 years. Abnormal evoked potentials, an increased oligoclonal band of IgG-K in the cerebrospinal fluid and disseminated white matter lesions in magnetic resonance images (MRI) were compatible with a diagnosis of clinically definite multiple sclerosis. After cyclosporine treatment, the ataxia became stable without further deterioration. A follow-up MRI six months later did not reveal any active lesions. The importance of MRI in the confirmation of the clinical diagnosis and the evaluation of therapeutic effects in patients with atypical multiple sclerosis is emphasized.
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PMID:Magnetic resonance imaging in a multiple sclerosis patient with progressive ataxia. 774 43

This communication concerns a 55 year old woman with a 5 year history of chronic progressive multiple sclerosis (MS) in whom a single external application of extremely low magnetic fields (MF) (7.5 picoTesla; 5 Hz frequency) of 20 minutes duration resulted in a rapid improvement in symptoms including vision, cerebellar symptomatology (ataxia and dysarthria), bladder functions, mood, sleep, cognitive functions and fatigue. Improvement in the patient's symptoms was associated with normalization of the pretreatment abnormal visual evoked potential (VEP) latencies within 24 hours after magnetic treatment. The rapid normalization of the VEP latencies suggests that recovery did not occur as a result of remyelination but probably was related to enhancement of neurotransmitter functions. MF have been shown to alter cellular calcium metabolism which may facilitate axonal conduction in demyelinating plaques. Furthermore, as MF affects the release of the pineal gland's principal hormone, melatonin, which influences the release of monoamines, it is also hypothesized that the effects of picoTesla MF in MS are partly mediated by the pineal gland which has recently been implicated in the pathogenesis of MS (Sandyk, 1992 a).
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PMID:Rapid normalization of visual evoked potentials by picoTesla range magnetic fields in chronic progressive multiple sclerosis. 781 17


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