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)

Functional methionine synthase deficiency is generally characterized by homocystinuria and hypomethioninemia in the absence of methylmalonic aciduria. Patients are divided into two classes, cblE and cblG, on the basis of complementation analysis. Presentation has usually been in the first 2 years of life, but one patient came to medical attention at age 21 years with symptoms initially diagnosed as multiple sclerosis. Common findings among 11 patients (4 with cblE and 7 with cblG) have included megaloblastic anemia (all patients) and various neurological deficits including developmental retardation (10 patients), cerebral atrophy (8 patients), hypotonia (7 patients), EEG abnormalities (6 patients), and nystagmus (5 patients). Hypertonia, seizures, blindness, and ataxia were less frequent. All patients have responded to therapy with cobalamin with resolution of anemia and biochemical abnormalities; neurological deficits resolved more slowly and in some cases incompletely. Hydroxycobalamin has been more effective than cyanocobalamin. Fibroblasts from patients with cblE (5 patients) and cblG (6 patients) all showed decreased intracellular levels of methylcobalamin (MeCbl) and decreased incorporation of label from 5-methyltetrahydrofolate into macromolecules, suggesting decreased activity of the MeCbl-dependent enzyme methionine synthase. Methionine synthase specific activity in extracts of all cblE fibroblasts was normal or near-normal under standard reducing conditions; synthase specific activity in extracts of 5 cblG patients was low but was high in a 6th patient measured in another laboratory. Thus, there is heterogeneity among patients with functional methionine synthase deficiency both in clinical presentation and in the results of biochemical studies of cultured cells.
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PMID:Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. 268 21

The chronic motor handicaps of a 30-year-old multiple sclerosis patient acutely improved while he smoked a marihuana cigarette. This effect was quantitatively assessed by means of clinical rating, electromyographic investigation of the leg flexor reflexes and electromagnetic recording of the hand action tremor. It is concluded that cannabinoids may have powerful beneficial effects on both spasticity and ataxia that warrant further evaluation.
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PMID:Effect of cannabinoids on spasticity and ataxia in multiple sclerosis. 270 54

Thirty-two patients with primary progressive cerebellar ataxia were studied using MRI. This technique is better than CT in demonstrating atrophy of cerebellar structures as well as of brainstem and spinal cord. The differential diagnosis from other diseases particularly with multiple sclerosis is easier. The degree of ataxia correlated well with the degree of atrophy of cerebellum. However we could not see any correlation between the degree of atrophy and the onset and duration of the disease and no certain specific aspects could be demonstrated in the different groups examined.
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PMID:Primary progressive cerebellar ataxia. 271 98

Although muscle and nerve are reasonably well protected against active oxygen and related free radicals, environmental or inherited malfunctions can overpower their defences. Active oxygen is involved in many neuropathies and myopathies. In every case the damage is caused by agents which exert effects disproportionately greater than the quantities encountered, through a variety of amplification mechanisms. We can categorize these amplification mechanisms as follows: (a) non-replacement of targets (e.g. loss of genetic information, ataxia telangectasia being an hereditary ataxia in which an oxygen mediated chromosomal instability is apparent), (b) non-removal of unwanted materials (e.g. lipofuscin accumulation in brain and heart), (c) redox cycling, usually involving catalysis by trace-metal ions (e.g. some forms of Parkinsonism), (d) non-redox catalysis (e.g. toxicity in cardiac muscle or brain due to vanadium or aluminium respectively), (e) modification of ion transport (e.g. calcium ionophore or acrylamide induce histopathological changes in muscle, similar in some respects to those seen in Duchenne muscular dystrophy), (f) compromised defences (e.g. muscle and nerve become particularly susceptible to free radical damage after loss of the protective actions of vitamin E), and (g) amplification by inflammatory and immune responses (e.g. multiple sclerosis, reperfusion injury to brain and heart, and traumatic injury to nervous tissue). Unfortunately, a variety of therapeutic agents which might be expected to protect against almost every conceivable form of oxygen mediated damage have proved clinically ineffective in most of these disorders. The reasons for this will be explored with an emphasis on common features, differences, mechanisms, and potential therapeutic approaches.
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PMID:Active oxygen in neuromuscular disorders. 306 22

We report two patients with chronic encephalomyelitis due to Borrelia burgdorferi in whom the definite diagnosis was delayed because of atypical clinical features. The first patient presented with chronic spastic paraparesis, slight ataxia and nystagmus of several years' duration. A tentative diagnosis of multiple sclerosis was made in spite of important abnormalities of the CSF biological characteristics. The second patient presented with an acute aphasia and a bilateral Babinski's sign. He was thought to suffer from benign herpetic meningoencephalitis. Several months later, as the patient experienced relapses with cerebellar and spinal cord involvement, falsely positive tests for syphilis were found and an antibiotic treatment was given. High protein content, low glucose levels, pleocytosis and oligoclonal bands were observed in all CSF samples, but the definite diagnosis was based on the detection of serum and CSF antibodies against B. burgdorferi.
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PMID:[Borrelia burgdorferi encephalomyelitis]. 318 97

A 2 year old boy was admitted owing to a subacute episode of ataxic gait and hearing deficit. Computerized tomography (CT) was normal and cerebrospinal fluid (CSF) analysis revealed gamma globulins level of 15.4% (normal 7 to 14%). There was spontaneous remission after 7 months. At 5 years of age the boy incurred a second episode with predominantly right appendicular ataxia and tonic gaze deviation to the right side. CT showed a low-density lesion in the white matter adjacent to the right frontal horn. Visual and auditory evoked potentials were abnormal. CSF revealed a mild increase in gamma globulins level of 14.5% with an abnormal T lymphocyte subsets study. The combination of visual, cerebellar, brain stem and paraventricular lesions with clear remissions and exacerbations, supported by CT, CSF and evoked potentials findings suggests the diagnosis of multiple sclerosis even at this early age.
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PMID:Multiple sclerosis with early childhood onset. A case report. 320 18

Cerebrospinal fluid (CSF) levels of the anxiogenic neuropeptide diazepam binding inhibitor (DBI) were determined by radioimmunoassay in 281 patients who underwent evaluation for neurological problems. Serial dilution curves and reverse-phase high pressure liquid chromatography showed that the immunoreactive material in CSF behaved just as authentic DBI extracted from human brain. Furthermore in the assay there was no evidence of interference from CSF samples deprived of DBI by immunoaffinity. In 82 patients with no evidence of major lesions in the central nervous system, who acted as controls, the CSF DBI content was shown to be age- and sex-related. No correlation was observed with the CSF protein concentration. In patients with different types of dementia, the levels of CSF DBI were significantly increased in a group with normal pressure hydrocephalus. No significant differences were found between Alzheimer's disease, multi-infarct dementia, or dementia with Parkinson's disease and controls. In non-demented patients with Parkinson's disease the levels of DBI were increased in a subgroup with depressive disturbances whereas no differences was observed in the non-depressed cases. The content of DBI was markedly reduced in 5 cases with olivopontocerebellar atrophy and in 4 with spinocerebellar ataxia. In all the other disorders studied the levels of DBI were similar to or slightly lower (multiple sclerosis) than those of the controls. The origin of DBI in cerebrospinal fluid is uncertain; a number of various possibilities are discussed concerning the proposed role of DBI as modulator of brain GABAergic transmission.
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PMID:Diazepam binding inhibitor-like immunoreactivity (DBI-LI) in human CSF. Correlations with neurological disorders. 321 41

MR has emerged as the imaging modality of choice for the brain in patients presenting with seizures, chronic headaches, progressive neurologic deficits, ataxia, vertigo, hearing loss, visual loss, congenital abnormalities, signs of increased intracranial pressure, dementia, suspected multiple sclerosis, and in the vast majority of other elective neurologic problems. CT should currently be considered the primary imaging modality in patients with acute neurologic deficits (stroke), acute onset of severe headaches, and when fine bone detail is required. Acutely injured patients are more readily studied with CT. The vast majority of patients in whom CT is preferred are seen in emergent situations, frequently in hospital emergency rooms. The effects of trauma beyond the acute stage are best evaluated with MR. In the future, MR is likely to become the procedure of choice in even more clinical situations than at present. A summary of currently recommended primary imaging modalities in various clinical situations is provided in Table 1.
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PMID:Imaging strategies for MR of the brain. 328 31

Ten patients with sporadic late onset cerebellar ataxia (LOCA) are described. The mean age of onset was 50.4 +/- 7.13 years. The important clinical features were gait ataxia, poor coordination of hands, intention tremors, exaggerated deep tendon reflexes, extrapyramidal symptoms and extensor plantar responses. Computerised tomography (CT) scanning in one patient showed a low density mid-line lesion, suggesting early cerebellar atrophy. Histopathological examination in one patient, clinically diagnosed as multiple sclerosis, revealed complete loss of Purkinje cells from the cerebellar folia with gliosis in the molecular layer and loss of small granular neurones. A marked loss of the neurones from the olivary nuclei with astrocytic proliferation was also seen. The disorder is probably genetically determined although a single Mendelian inheritance is unlikely in the absence of recurrence in the first degree relatives. Recurrence risks for gentic counselling are suggested.
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PMID:The clinical, pathological and genetic aspects of sporadic late onset cerebellar ataxia: observations on a series of ten patients. 337 43

The author depicts a psycholinguistic technique aimed at the identification in the speech of patients with impaired cerebellum of the same signs of ataxia which can be detected in their hand movements. The diagnostic significance of the technique was tested in 3 clinical groups of patients: with multiple sclerosis (Group 1), neurosurgical diseases of the cerebellum (Group 2), and with olivopontocerebellar atrophy (Group 3). The findings obtained suggest that the psycholinguistic technique may be used for the early diagnosis of neurosurgical diseases of the cerebellum, detection of residual focal lesions, diagnosis of multiple sclerosis and its individual clinical forms, as well as for the pathogenetic validation of the restorative training of patients with cerebellar dysarthria.
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PMID:[Focal cerebellar lesions and psycholinguistic methods for their diagnosis]. 342 76


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