Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: DrugBank:BIOD00035 (CSF)
 30,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Heredopathia atactica polyneuritiformis (Refsum's syndrome) is an autosomal recessively inherited lipidosis characterized by the following signs: peripheral hypertrophic polyneuropathy, cerebellar ataxia, atypical retinitis pigmentosa with night blindness and concentric limitation of the visual fields, anosmia, inner ear hearing disturbances, skeletal anomalies, ichthyotic skin changes, raised protein in the CSF without a cellular increase, and non-specific ECG changes. Biochemically it is a lipidosis with atypical increase of phytanic acid in blood, CSF, and tissues. The metabolic defect results from a degradation disturbance of exogenous phytanic acid. The report of a patient whose clinical picture plus chemical, neurophysiological and histological results led to the diagnosis of Refsum's syndrome is presented. Using a low phytol- and phytanic-acid diet a marked decrease of phytanic acid in the serum and an improvement of the clinico-neurological signs were observed.
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PMID:[Refsum's syndrome (author's transl)]. 7 82

Refsum's disease is a rare inherited disease of lipid metabolism. The cardinal diagnostic features include polyneuritis, cerebellar ataxia, an atypical pigmentosa and a high CSF protein. The disorders is accompanied by the accumulation in the tissues, especially the liver and kidneys, of the lipid 'phytanic acid'. The disease is due to the absence of the enzyme phytanic acid alpha-hydroxylase which catalyses the conversion of phytanic acid to alpha-hydroxy phytanic acid the initial step in its further metabolism. In his original monograph Refsum (1945) documented a number of skeletal abnormalities and the full spectrum of changes that occur has become clear though the accumulating subsequent reports. This paper documents the osseous changes in three members with the disease in a single family. These include epiphyseal dysplasia, especially pronounced in the knees, and shortening and deformity of many of the tubular bones in the hands and feet.
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PMID:Skeletal changes in Refsum's disease. 9 86

In two cases of varicella-associated cerebellar ataxia, varicella-zoster antigens in CSF cells were shown by an indirect immunofluorescent technique. Direct viral invasion in CNS disease complicating varicella plays an important part in pathogenesis and rules out a single immune-mediated mechanism.
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PMID:Varicella and acute cerebellar ataxia. 21 58

A rare case of the choroid plexus papilloma originating from the extraventricle was reported. A 48-hear-old woman began not to walk well about two years ago. Then, she was complained of vertigo, hearing disturbance of the right ear and nausea. These symptoms gradually increased. On admission she had papilledema, Brun's nystagmus, hearing disturbance of right ear and cerebellar ataxia. Cerebral angiogram and CT scan showed dilated ventricles and a large tumor in the posterior fossa. At operation, tumor was found in extramedullary space at the right cerebello-pontine angle and extended to the foramen magnum. This was removed totally. Histological examination revealed choroid plexus papilloma. Her postoperative course was satisfactory and shunting procedure was not necessary. According to the electron microscopic findings, the ultrastructure of tumor was similar to that of normal choroid plexus. We could not clear the morphological features which were considered essential for overproduction of CSF in the tumor.
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PMID:[A case of choroid plexus papilloma at the right cerebello-pontine angle (author's transl)]. 30 61

Two patients aged 17 and 25 years with Kearns syndrome are described. This condition is characterized by the triad of chronic progressive external ophthalmoplegia, pigmentary degeneration of of the retina and cardiac conduction defects. A review of the literature reveals frequent association with other symptoms, mainly cerebellar ataxia, neurosensory hearing loss, small stature, muscle weakness, mental retardation or dementia and endocrine disturbances. In skeletal and extraocular muscle biopsies, abnormalities of mitochondria, at present of unknown significance, have been found. CSF protein is almost always increased. The etiology of this multisystem disorder remains obscure. The 58 published cases have been sporadic, with no evidence of hereditary transmission. The prognosis seems mainly to depend on the progressive cardiac conduction defects, since several patients have already died in the second or third decade due to heart block. Patients with progressive external ophthalmoplegia should be investigated for Kearns syndrome. If appropriate, implantation of a cardiac pacemaker should be considered.
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PMID:[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders]. 59 31

CNS involvement is a rare manifestation of collagen disease. But in three patients with lupus erythematosus (L.E.) the disease was from its onset characterized by CNS signs: epileptic seizures, cerebellar ataxia, and organic psychosis. The combination of epilepsy or organic psychosis with inflammatory joint disease should make one consider L.E. in the differential diagnosis, even if there is no close time relationship between the occurrence of these signs. Muscle biopsy, EEG recordings and CSF examinations may be of diagnostic value in addition to serological and immunological studies.
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PMID:[Early CNS manifestations in lupus erythematosus (author's transl)]. 118 35

A 63-year-old man developed gradually progressive bilateral loss of vision, cerebellar ataxia, and downbeat nystagmus. Visual acuity was 20/400 OD and 20/200 OS, with cecocentral scotomas OU. Fundus examination showed bilateral optic atrophy and a vitreous cellular reaction. MRI of the brain was normal. CSF protein was elevated, with increased IgG levels but no malignant cells. Biopsy of a pulmonary lymph node showed undifferentiated small cell carcinoma. Neoplastic cells were positive for neuron-specific enolase. Serum contained IgG, which reacted with neuronal and glial cytoplasm and processes. IgG reactivity with systemic tissues and the patient's tumor was not different from that observed with control sera. Paraneoplastic optic neuropathy should be considered in patients with unexplained visual loss and malignancy, and our observations suggest a possible immunologic basis for this condition.
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PMID:Optic neuropathy: a rare paraneoplastic syndrome. 132 6

A 54-year-old woman developed headache and slight fever. When she consulted a physician, she could not move either of her eyes to the right. Cranial CT scan revealed no significant findings. Lumbar puncture was performed and CSF examination showed the cell count of 10,304/mm3, glucose level of 10 mg/dl, and total protein value of 270 mg/dl. Her symptoms and laboratory findings suggested meningitis and she was admitted to our hospital. Neurological examination revealed bilateral dilated pupils with sluggish light reflex, right gaze palsy, and hypesthesia of the left side of her face. A diagnosis of tuberculous meningitis was established by a positive test for acid-fast bacillus in CSF, and anti-tuberculous therapy was started at once. One month after the onset of symptoms, her main complaints were double vision and cerebellar ataxia. Both CT and MRI revealed a right brain-stem lesion. Pre-contrast CT could not clearly visualize the lesion but with contrast medium a homogeneously-enhanced circular lesion was shown. MRI on T2WI demonstrated the right brain-stem lesion to have a central bright core with hypointense periphery, which in turn was surrounded by hyperintensity. The lesion appeared isointense with cerebral white matter and the "central bright core" area was demonstrated to be slightly hypointense on T1WI. On post-contrast T1WI (with Gd-DTPA), the lesion showed strong homogeneous enhancement. The CT and MRI findings indicated a brain-stem tuberculoma, which was regarded as the cause of the ocular movement paralysis and cerebellar ataxia. As the clinical symptoms gradually resolved with anti-tuberculous treatment, the MRI appearance of the lesion also improved.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[MRI findings of brain-stem tuberculoma in a case of tuberculous meningitis]. 149 Mar 12

A 38-year-old male began to develop progressive difficulty in speaking and walking in his early thirties. He was the younger of four siblings from the parents of consanguineous marriage. Allegedly, his brother had showed similar symptoms. On examination, he was sexually underdeveloped with absent facial and public hair as well as small firm testes. He showed typical eunuchoid habitus. Neurologically, his gait was markedly ataxic and speech was explosive. He was mildly demented (verbal IQ = 66) and eupholic. Generalized hyperreflexia and positive Babinski were observed. There were no signs of extrapyramidal, autonomic or peripheral nerve involvement. Laboratory data were remarkable for low level of serum gonadotropins and low level of HVA and 5-HIAA in CSF. Plasma long-chain fatty acids were normal and lysosomal enzymes in leukocyte including ASA showed no significant change. EEG showed diffuse slow activities with spikes on photic stimulation. The endocrinological studies including insulin-induced hypoglycemia and TRH test demonstrated hypothalamus-pituitary axis dysfunction. GH-RH test showed delayed response of GH secretion, suggesting the presence of hypothalamic disturbance. Brain CT showed cerebellar atrophy and symmetrical low density area in the cerebral white matter. On MRI, T2 weighed image showed diffuse and symmetrical high intensity area in the cerebral white matter. High signal intensities were also noted in the bilateral thalamus and pons. It is suggested that both hypogonadotropic hypogonadism and cerebellar ataxia in this disease may have a common underlying pathology of white matter.
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PMID:[Cerebellar ataxia with hypogonadotropic hypogonadism]. 161 80

A 70-year-old woman was admitted to our hospital because of rapidly progressive cerebellar ataxia. Neurological examinations showed saccadic eye movement, downbeat nystagmus, scanning speech, proximal dominant muscle weakness and severe truncal and limb ataxia. Based on these clinical features, she was suspected to have paraneoplastic cerebellar degeneration (PCD), although the malignant tumor was not detected through clinical intensive surveys. Her serum and CSF revealed to have anti-Purkinje cell antibodies immunohistochemically, and western blot analysis showed that they reacted with 58 kd band. In view of previous reports of PCD, she was strongly suspected to have gynecological cancers. The trial laparotomy found early stage fallopian tubal cancer, which had not been detected by CT scan, ultrasonogram and MRI. It is important to detect and characterize these autoantibodies found in the PCD patients for early diagnosis and treatment of underlying cancer.
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PMID:[A case of paraneoplastic cerebellar degeneration--success in early detection of cancer by anti-Purkinje cell antibody]. 162 54


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