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)

Our objective has been to trace Joseph's disease to its geographic origins and to determine the spectrum of clinical manifestations. This goal we have achieved by documenting type I and II disease within the Joseph and Sousa families. The major neuropathologic findings are a progressive neuronal loss involving the striatum, nigra, dentate nucleus of the cerebellum, and lower motor neurons in the brainstem and spinal cord. The homozygote form of the disease produces type I disease with onset in early childhood of progressive dystonia, athetosis, and spasticity. Type I disease tends to have its onset by age 25 years in heterozygotes and lasts about 15 years on the average. Type II disease, which we consider the result of a single dose of the mutant gene, usually begins somewhat later and runs its course over a 20-year period. Type III disease documented in the Thomas family is the most benign. Its onset is often in the fifth decade, and it progresses slowly into the eighth decade. Patients may benefit from antiparkinson medication including dihydroxyphenylalanine and anticholinergic agents (e.g., amantadine). A molecular marker for the disease is being sought actively, and several interesting patterns have already been documented by means of patient fibroblast cultures and two-dimensional acrylamide gel protein separations. The mutant gene is clearly outside the HLA complex but may be linked to it. The only biochemical change noted thus far is a reduced CSF level of HVA that probably reflects the loss of dopamine-synthesizing neurons in the substantia nigra and is thus a secondary effect of disease. Although the disease is a very old one which we can trace back to the early 19th century on the island of Flores, it may be recurring de novo by new gene mutations at an unstable gene locus in a genetically vulnerable population. Now that the spectrum of clinical expression has been identified and the mode of inheritance established as an autosomal dominant wherever the disease has been found, it is believed that its true incidence will become more evident by virtue of better detection and that the true incidence will actually increase because of increased assimilation of affected persons into other ethnic groups.
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PMID:Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. 73 30

Two patients with acute encephalopathy with bilateral striatal necrosis are presented and the literature on the subject is reviewed. The disease is characterized by abrupt onset following a systemic infectious illness, with disturbance of consciousness, absence of speech, dystonic movements of the limbs, general stiffness, opisthotonus, tremor, facial grimacing, and stereotyped reaction to painful stimuli. After a variable period of time, there is gradual improvement of the neurological status with clearing of consciousness and recovery of motor functions. Mild CSF pleocytosis is the only abnormal laboratory test encountered. Cranial imaging shows from the beginning of the illness, bilateral involvement of the striatum that may persist indefinitely. The pathogenesis of this disorder remains unknown although an infectious or para-infectious mechanism seems to be the most likely possibility.
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PMID:Acute encephalopathy with bilateral striatal necrosis. A distinctive clinicopathological condition. 149 50

We describe two sporadic cases of dystonia-parkinsonism at different stages of disease progression. The two girls, first seen at the ages of 10 and 12 years, have been followed for 9 and 2 years respectively. In both patients L-dopa 60 mg + carbidopa 6 mg brought about a swift remission of symptoms, which persists to date. All examinations, including CT and MR brainscans, were normal. The CSF and urine levels of HVA and 5HIAA were low in one case and normalized with treatment. This finding might provide a fairly valid predictive index of responsiveness to L-dopa.
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PMID:Consideration on two cases of dystonia-parkinsonism. 172 Jan 14

Mumps virus is one of the most common causes of viral meningitis. Although brain involvement has been observed in a low proportion of children with mumps meningitis, a pure form of mumps encephalitis is extremely uncommon in the adult. A 23 year-old man presented with a rapidly evolving syndrome of cephalalgia , vomiting, mutism, disorders of gait, somnolence and dystonic movements. The electroencephalogram showed a diffusely slowed background activity. The CSF contained no cells, but the total protein concentration was elevated. The patient recovered without sequelae, but severe intellectual and motor disturbances persisted during more than a month. Serological studies showed an increase of blood IgM mumps-specific antibodies. We conclude that mumps encephalitis, although infrequent, should be considered among viral diseases that mimic herpes simplex encephalitis in the adulthood.
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PMID:[Mumps encephalitis in adulthood]. 205

A 13-year-old boy was the victim of a strangulation attempt. His behavior was normal by the 6th day after the assault. However, from the 7th day, he developed choreoathetosis, dystonia and marked pseudobulbar palsy. CT and T2-weighted MRI at this time revealed a low density and high signal intensity in the region of the bilateral putamen and caudate respectively for the first time. Thereafter, these symptoms and changes in CTs and MRIs subsided gradually over two months. Sequential analysis of CSF for GABA and dopamine during illness revealed reciprocal changes each other with normal recovery. Because of delayed onset of neurological changes, and findings of CSF with reversible symptoms the delayed encephalopathy after strangulation is probably related to biochemical alteration secondary to anoxia in vulnerable basal ganglia.
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PMID:[Delayed postanoxic encephalopathy after strangulation--the serial neuroradiological and neurochemical studies]. 210 26

A deficiency of dihydrobiopterin synthesis was found in a 27-year-old man with mild mental retardation, rigid spasticity, hyperreflexia, dystonia, myoclonus, and delay in the initiation of action, since age 10. Symptoms improved after sleep. Urine contained large amounts of neopterin and a trace of biopterin. Dihydropteridine reductase activity in red blood cells was normal. CSF levels of HVA and 5-HIAA were low. Tetrahydrobiopterin administration lowered serum phenylalanine and improved the symptoms.
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PMID:Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms. 243 82

Two pairs of siblings with severe dystonia with marked diurnal fluctuation had both reduced CSF concentration of biopterin and marked symptomatic improvement of the dystonia in response to levodopa. Whether the reduced concentration of biopterin reflects focal abiotrophy of biopterin-containing neurons or deficiency of biopterin synthesis is uncertain. A fifth individual, who had a systemic deficiency of biopterin synthesis, shared the features of reduced biopterin in CSF, marked diurnal variation in the degree of dystonia, and clinical improvement in response to levodopa. Generalized dystonia with marked diurnal fluctuation was therefore shared by the four patients in whom biopterin deficiency was limited to the CNS and the patient with systemic deficiency of biopterin.
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PMID:Dystonia with marked diurnal variation associated with biopterin deficiency. 245 81

We administered tetrahydrobiopterin (BH4) to 4 patients with progressive dystonia with diurnal variation (PDDV). One patient improved clinically. Deficient CSF concentrations of HVA and 5-HIAA were unchanged despite marked elevation of CSF biopterin concentration. Variable effectiveness of BH4 in PDDV may reflect reduced number or function of biopterin-metabolizing neurons or variable entry of BH4 into these neurons.
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PMID:Tetrahydrobiopterin administration in biopterin-deficient progressive dystonia with diurnal variation. 247 72

Clozapine, an atypical neuroleptic, does not cause extrapyramidal symptoms of Parkinsonism and dystonia and appears to have a reduced or absent capacity to produce tardive dyskinesia. 37 subjects, most with chronic schizophrenia, were treated with clozapine and TD outcome was analyzed. A subset of these subjects underwent plasma and CSF studies. TD response was heterogenous, but a proportion of patients improved with clozapine treatment. Neurochemical data differed from published reports of classical neuroleptics with the most robust effect produced by clozapine seen in CSF norepinephrine levels. Other neurochemical data and implications for the mechanism of clozapine in TD are reviewed.
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PMID:Clozapine pharmacology and tardive dyskinesia. 247 47

We measured four monoamine metabolite levels in CSF before and after probenecid administration to normal controls and to patients with Huntington's disease (HD), dystonia, and tardive dyskinesia. We identified differences only for the dopamine metabolite homovanillic acid (HVA), which showed increased baseline values and decreased turnover in normal aging, but decreased baseline values and normal turnover in HD. These results suggest that dopamine neurons are linked both to normal aging and to HD and that CSF HVA studies can distinguish differences in the functioning of dopamine neurons in normal aging and HD.
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PMID:CSF monamine metabolites in movement disorders and normal aging. 267 3


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