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

Disordering of brain and erythrocyte membranes by ethanol in vitro was measured by ESR using 5-doxylstearic acid as spin label. Synaptosomal plasma membranes and erythrocyte membranes were isolated from two lines of mice developed, by selective breeding, for differential sensitivity to hypnotic effects of ethanol. Membranes taken from alcohol-sensitive "long-sleep" mice were more strongly disordered by ethanol in vitro than were membranes from alcohol-resistant "short-sleep" mice. Furthermore, within a population of genetically heterogeneous mice, the most ethanol-sensitive animals had the most ethanol-sensitive synaptosomal plasma membranes. In vivo sensitivity of the individual mice was evaluated by measuring brain ethanol levels at a precise behavioral end point, recovery from ataxia. The data extend our previous observations of correlations between in vitro and in vivo effects of ethanol and suggest that membrane disordering may be a primary mechanism of acute effects of ethanol.
 ...
PMID:Ethanol disordering of spin-labeled mouse brain membranes: correlation with genetically determined ethanol sensitivity of mice. 628 76

Twelve cases of chronic sensorimotor neuropathy associated with benign IgM paraproteinaemia are described. The onset was in the sixth or seventh decades and 9 cases were male. Tremor and ataxia were common features. The ESR was raised in 6 cases and the CSF protein content elevated in 10. There was severe reduction of motor nerve conduction velocity. Sera from all cases contained monoclonal IgM antibodies strongly reactive with human peripheral myelin, made up by the paraprotein. Histological studies on nerve biopsies taken from 8 cases all demonstrated a demyelinating neuropathy. Eight biopsies were examined by immunofluorescence. Monoclonal IgM was present on the myelin sheaths of surviving myelinated nerve fibres. The findings suggested that the neuropathy was of autoimmune origin and caused directly by the antimyelin antibody.
 ...
PMID:Chronic demyelinating neuropathy associated with benign IgM paraproteinaemia. 633 2

Acute-phase and convalescent-phase sera of 66 children, aged 3 months to 12 years, with neurologic disorders of unknown etiology were tested against Legionella pneumophila polyvalent and monovalent antigens (groups 1 to 4). Three significant antibody titer increases were obtained, all in children with acute cerebellar ataxia. This neurologic syndrome was characterized by sudden onset of muscle hypotonia and inability to sit or walk, with no other specific neurologic or systemic symptoms. Persisting pharyngitis always preceded ataxia. Fever of short duration was still present. Gastrointestinal disturbance occurred in two of the three children. Abnormal laboratory findings were, not always simultaneously, high ESR and leukocytosis with lymphocytosis. CSF levels and electromyographic findings were normal in two of the children. Two children received oral betamethasone. Recovery was complete within seven to ten days without antibiotic treatment. These studies indicate the possible etiologic role of L pneumophila in acute cerebellar ataxia.
 ...
PMID:Acute cerebellar ataxia in pediatric legionellosis. 664 29

We report a 65-year-old woman with progressive multiple cranial neuropathy. She had been suffered from bronchial asthma since 1979 for which prednisolone had been prescribed. She noted an onset of pain around her nose in October, 1989, which extended into the periorbital regions bilaterally. In February, 1990, she was treated with stellate ganglion block and trigeminal nerve block; these treatments partially alleviated her pain. In May of 1991, she noted a difficulty in swallowing solid foods. In November of the same year, she developed right facial paresis; two weeks later, she noted numbness in her left face, and was hospitalized to our service on December 16, 1991. On admission, she was afebrile and general physical examination was unremarkable except for piping rales in her both lung fields. On neurologic examination, she was alert and oriented to all spheres; higher cerebral functions were intact. In the cranial nerves, her olfactory sense was lost bilaterally; her vision was markedly diminished bilaterally only to recognize hand movements; the optic fundi appeared normal; the pupils were isocoric and reacted to light promptly. The extraocular muscles were moderately weak to most of the directions more on the left; no nystagmus was present. Facial sensation was diminished bilaterally; the jaw deviated to right; right facial paresis of peripheral type was present; her hearing was diminished bilaterally more on the right. The movement of the soft palate was diminished on the right side; dysphagia was present; her voice was horse; the gag reflex was diminished. The sternocleidomastoid muscle was weak bilaterally; the tongue appeared normal. Examination of gait was differed because of headache, however, no apparent motor weakness was present. No ataxia or involuntary movement was noted. Deep reflexes were normally elicited and symmetric. Plantar response was flexor. Sensation in the extremities was intact. Kernig's sign was positive at 70 degree leg extension; eyeball tenderness was also present bilaterally, however, no nuchal stiffness was noted. Following abnormalities were present in the laboratory examination: WBC 11,400/microliters, ESR 50 mm/hr, CRP 6.1 mg/dl. The lumbar CSF was under a normal pressure containing 29 WBC/microliters (neutrophils 7, lymphocytes 20, others 2), 67 mg/dl of protein, and 53 mg/dl of sugar; cultures for acid-fast bacilli as well as for other bacteria were negative; no malignant cells were found. A cranial CT scan revealed an isodensity mass in the orbit and ill-defined low density areas in the white matters of the frontal lobes.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:[A 65-year-old woman with headache, facial pain, and progressive multiple cranial neuropathy]. 787 85

An 11-year-old boy suffered from fever, headache, severe vertigo and unsteady gait. Physical examination showed bilateral vertical nystagmus, mild corneal reflex delay of the right eye and asymmetric facial expression. Laboratory data showed leukopenia, high ESR and normal CSF study. Brain CT showed diffuse brain edema. Electronystagmography showed upbeat nystagmus and central vertigo. EEG revealed diffuse slow wave and mild to moderate cortical dysfunction. MRI of the head showed focal abnormal signal intensity at the ventral portion of the medulla oblongata on both sides. Under suspicion of enteroviral encephalitis, mannitol and IVIG were given. The virological profiles were negative, ANA 1:640 nucleolar type, low complements and proteinuria. Anti-ds DNA was elevated and anti-ribosomal-P antibodies were positive. Under impression of SLE with CNS involvement, betamethasone was given. Fever, nystagmus and ataxia subsided gradually. Steroid was tapered and imuran was added. The following laboratory data were normal. In his past history, the patient was diagnosed Kikuchi disease. The manifestations of SLE were rare initial presentations as vertigo or vertical nystagmus. We present a case with review of literature and conclusion that physicians should keep in mind the possibility of SLE if patients present with unspecific neurological symptoms and concomitant systemic symptoms.
 ...
PMID:Systemic lupus erythematosus with presentation as vertigo and vertical nystagmus: report of one case. 1452 Oct 22

In this study we report the synthesis of a series of new amphiphilic compounds derived from alpha-phenyl-N-tert-butylnitrone (PBN). The nitrone function was fitted into the core of the molecule between its polar and apolar groups. The polar head consisted of a lactobionamide, an ammonium, or a carboxylate group. The hydrophobic part consisted of a hydro- or a perfluorocarbon chain. The hydrophobic chain was linked to the tert-butyl group of the PBN derivatives using an urethane, a thioether, or an amide bond. The impact of these different parameters on the hydrophilic lipophilic balance of these compounds and their spin trap activity were studied. The various ESR measurements indicated that the aromatic and tert-butyl functional groups of PBN did not affect its spin trap properties. Moreover, these compounds were found to increase the viability of cultured human skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa mutation and presenting a severe ATPase deficiency.
 ...
PMID:Synthesis and preliminary biological evaluations of ionic and nonionic amphiphilic alpha-phenyl-N-tert-butylnitrone derivatives. 1461 25

Creutzfeldt-Jakob disease (CJD) is a presenile dementia characterized by rapidly progressive mental deterioration, myoclonic jerking, and other less common neurological signs. Few autoctonous cases have been described in Brazil. A 54-year-old white woman, was admitted in our service with a month history of progressive, bilateral cortical blindness. After admission, she developed right partial motor seizures( right facial, upper and lower limbs), she became progressively aphasic( mixed aphasia). Seizures were controlled with phenytoin, but she developed choreoathetotic movements on her right dimidium, with partial control after introduction of chlorpromazine 25 mg q/d. She could no longer stand up or walk due to severe ataxia. The first EEG (October, 2001) showed left hemisphere severe seizure activity (status epilepticus partialis). She was delivered home with enteral nutrition, phenytoin, chlorpromazine and mepacrine 100 mg qd. The following laboratorial tests were negative or normal: blood series, platelets, ESR, kidney and liver function, copper, ceruloplasmin, VDRL, HIV, HTLV-1, lactate, and cerebral DSA (performed in other service).A spinal tap with normal opening pressure was perform and CSF examination was normal. CSF 14-3-3 protein was positive, CSF specific neuronal enolase 7.5 ng/ml(normal). Genetic study of PRNP gene did not disclosed any known mutation. A MRI (October, 2001) showed areas of hyperintense signal (T2 and FLAIR) without Gd-enhancement on T1, in the left temporal lobe and in both occipital lobes; basal ganglia have a normal appearance. DWI imaging showed bright areas at the same sites. An EEG (March, 2002) disclosed a periodical sharp triphasic waves pattern, suggestive of CJD. A second MRI (April, 2002) showed mild generalized atrophy, no ventricular dilatation, and the hyperintense sites disappeared. She remained clinically stable and under use of chlorpromazine and mepacrine until she died due to pulmonary complications on April, 2003.
 ...
PMID:[Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings]. 1523 44