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)

A 12 year old girl with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS) is reported. After a normal childhood, at 9 years of age she developed generalized and hemilateralized seizures. Posteriorly, these episodes became more frequent and were accompanied by headache, homonimous hemianopsia, ataxia, vomiting, photophobia, left hemiparesis, slurred speech and even convulsive status. Laboratory tests evidenced lactic acidosis, brain lucencies at CT Scan and ragged skeletal muscle fibers at muscle biopsy.
 ...
PMID:[Mitochondrial encephalomyopathy, lactic acidosis and features of cerebrovascular disorders]. 207 86

The authors studied the clinical histories of 17 patients with AIDS who were hospitalized with the diagnosis of Meningoencephalitis. Laboratory studies showed the causative agent to be Cryptococcus neoformans. All patients had fever and most had localized headache. Some patients had nausea and vomiting, nuchal rigidity and convulsions. One each had blurred vision, photophobia, periods of disorientation, ataxia, lumbar or cervical pain. Cell count, chemical analysis, India ink preparation and culture of the cerebrospinal fluid confirmed the diagnosis and the etiologic agent. Blood cultures were negative in the few patients on whom it was performed. The best results of therapy were obtained in the patients who received Amphotericin B and Fluocytosine (80%) in dosages of 0.3 to 1 mg/k/day and 150 mg/day respectively, for 21 days.
 ...
PMID:[Cryptococcus neoformans meningitis in patients with AIDS at the Saint Thomas Hospital]. 896 38

The second Caucasian xeroderma pigmentosum patient (XP42RO) belonging to complementation group F (XP-F) is described. Mild ocular photophobia was present from childhood, and acute skin reactions occurred upon exposure to sunlight. Basal and squamous cell carcinomas developed after his twenty-seventh year. In his late forties progressive neurologic symptoms emerged, which included intellectual decline, mild chorea and ataxia, and marked cerebral and cerebellar atrophy. Such neurologic abnormalities are very unusual in XP-F. Similar symptoms have been described in only one of 17 other XP-F individuals. His approximately 5-fold reduced activity of nucleotide excision repair in cultured cells, combined with moderately affected cell survival and DNA replication after UV exposure, are typical of XP-F. The recent cloning of the XPF gene allowed a molecular genetic analysis of this unusual patient. XP42RO, representing the second case studied in this respect, turned out to be homozygous for a point mutation in the XPF gene, causing an R788-->W substitution in the encoded protein. Surprisingly, this mutation had also been found in one allele of the other unrelated Caucasian XP-F case. The amount of mutated XPF protein is strongly reduced in cells from XP42RO, presumably due to a conformational change. Biochemical, genetic, and clinical data all indicate the presence of considerable residual repair activity, strongly suggesting that the R788W mutation is leaky.
 ...
PMID:Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 957 55

The patient-reported toxicity of an overdose of intravenous methamphetamine is described. The authors report the case of a 34-year old man who inadvertently injected himself with approximately 2.3 grams of methamphetamine. The patient reported disorientation, hallucinations, hyperthermia, photophobia, orthostasis and extreme ataxia. He recovered in seven days without apparent sequelae. The case demonstrates the unusual, temporary neurophysiologic consequences of high-dose intravenous methamphetamine.
 ...
PMID:Overdose of 2.3 grams of intravenous methamphetamine: case, analysis and patient perspective. 1182

The genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. The most severe form of tyrosinemia, Type I, is a devastating disorder of childhood that causes liver failure, painful neurologic crises, rickets, and hepatocarcinoma. This disorder is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). If untreated, death typically occurs at less than 2 years of age, with some chronic forms allowing longer survival. It has a prevalence of about 1 in 100,000 newborns in the general population. Oculocutaneous tyrosinemia, Type II, is caused by a deficiency of tyrosine aminotransferase (TAT). It clinically presents with hyperkeratotic plaques on the hands and soles of the feet and photophobia due to deposition of tyrosine crystals within the cornea. Tyrosinemia Type III is an extremely rare disorder caused by a deficiency of 4-hydroxyphenylpyruvic dioxygenase. It has been associated with ataxia and mild mental retardation. These disorders are diagnosed by observing elevated tyrosine by plasma amino acid chromatography and characteristic tyrosine metabolites by urine organic acid analysis. In tyrosinemia Type I, methionine is also elevated, reflecting impaired hepatocellular function. Urine organic acids show elevated p-hydroxy-phenyl organic acids in each type of tyrosinemia, and the pathognomic succinylacetone in tyrosinemia Type I. Diagnosis can be confirmed by enzyme or molecular studies in tyrosinemia Type I. Therapy consists of a diet low in phenylalanine and tyrosine for each of the tyrosinemias and 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) for tyrosinemia Type I.
 ...
PMID:The genetic tyrosinemias. 1660 95

Endovascular therapy for dural carotid cavernous fistulas (CCFs) is generally accepted to be safe and effective. The authors report a rare complication of hemorrhage and subsequent venous infarcts of the pons and cerebellum after transvenous embolization. This 41-year-old man presented with a severe left frontal headache, congestion of the left conjunctiva, blurred vision, and photophobia. Cerebral angiography demonstrated a right dural CCF. The patient underwent transvenous embolization of the cavernous sinus but had the initial complication of cerebellar hemorrhage. One month later, he developed progressive dizziness, ataxia, and right-sided weakness. Magnetic resonance imaging revealed severe cerebellar and pontine edema. The cause was a residual fistula combined with delayed occlusion of the inferior petrosal sinus. The fistula was obliterated after repeated embolizations. The patient's symptoms gradually resolved, and there was no evidence of recurrence during the 4-year follow-up period. Incomplete transvenous embolization of a dural CCF can result in life-threatening vascular complications due to redistribution of shunt flow. Early recognition of redistributed drainage and preventive placement of coils at the origin of draining veins during the procedure could avert this rare complication.
 ...
PMID:Cerebellar hemorrhage and subsequent venous infarction followed by incomplete transvenous embolization of dural carotid cavernous fistulas: a rare complication: case report. 2160 20

A 34-year-old man was admitted with his unsteady gait, difficulty in speech and a paroxysmal severe headache accompanied with sensori-motor disturbance of the right extremities and aphasic symptom. His family history was unremarkable. His unsteadiness has progressed very slowly from childhood. He noted to be inarticulate at the age of 18 years. At the age of 33 years, he suddenly had an attack of severe throbbing headache, which was mainly left parietal, with nausea and photophobia. During the headache, his right extremities were paralyzed and he became aphasic. He had lost a partial memory of the event All these symptoms had gone within 24 hours. Thereafter, the same headache occurred about once a month. Neurological examination revealed a mild truncal ataxia and ataxic dysarthria. Electroencephalography (EEG) showed intermittent delta waves restricted over the left fronto-temporal region. Brain MRI showed a moderate atrophy of superior cerebellar vermis and anterior cerebellar lobe. The diagnosis of sporadic hemiplegic migraine (SHM) with cerebellar ataxia was made. Our case was very similar to familial hemiplegic migraine (FHM) 1, of which some families are accompanied with transient amnesia, cerebellar ataxia and EEG abnormality. Although we did not detect any mutations in CACNA1A gene previously reported in FHM1, our case might share same pathogenesis with FHM1.
 ...
PMID:[Case of sporadic hemiplegic migraine with cerebellar ataxia]. 1959 4

Cryptococcus neoformans meningoencephalitis is the most common fungal central nervous system infection, in people affected by the human immunodeficiency virus. It is rare in inmunocompetent children and it is often fatal. It predominates in males at a ratio of 3 to 1. We describe the cases of two school children, one male and one female, with history of contact with pigeons (Columba livea), whose clinical symptoms were fever, headache, photophobia, diplopia, ataxia and meningeal signs, with unilateral involvement of cranial nerve VI. The diagnosis was established by the isolation of Cryptococcus neoformans in culture, staining with India ink and evidence of latex antigen agglutination in the cerebrospinal fluid. The determination of antibodies to human immunodeficiency virus and quantification of CD4, CD8 and T lymphocyte cells, were normal. In the first case, a chest X-ray showed a round mass, circumscribed in the bottom half of the left lung. A brain MRI revealed an image compatible with a nodular cryptococcoma in the parietal region. A pattern of intracranial hypertension was established, with papilledema and bilateral amaurosis, that evolved unsatisfactorily, with the subsequent death of the patient. Both were treated with amphotericin B (1 mg/Kg/day) or fluconazole (6 mg/Kg/day). The second case had a favorable evolution. The Crypotococcus neoformans is not a common fungus in inmunocompetent children. Early detection of the disease and appropriate treatment is essential to achieve a better prognosis ot the disease.
 ...
PMID:[Cryptococcus neoformans meningoencephalitis in immunocompetent schoolchildren]. 1966 18

Acute sensory ataxic neuropathy (ASAN) is known to occur with acute and monophasic sensory ataxia. Although autonomic dysfunctions have been reported, no detailed descriptions are currently available. We describe a case of ASAN in which the autonomic manifestations were systematically investigated. Although the patient did not complain of any autonomic symptoms, except for photophobia due to mydriasis, autonomic testing revealed widespread autonomic dysfunctions. Norepinephrine and dobutamine infusion test indicated the presence of sympathetic dysfunction. Additionally, the pupillary response to pilocarpine revealed the presence of parasympathetic dysfunction. In conclusion, widespread, subclinical autonomic dysfunctions may be present in ASAN patients.
...
PMID:Autonomic manifestations in acute sensory ataxic neuropathy: a case report. 2359 85

Nonsteroidal anti-inflammatory drugs (NSAIDs) are among the most commonly used agents in clinical practice. They are employed as anti-inflammatory, analgesic, and antipyretic agents for a wide spectrum of clinical conditions. Their anti-inflammatory properties are primarily due to inhibition of prostaglandin synthesis. In this paper we review the neurological effects associated with the use of NSAIDs. Acute CNS toxicity related to NSAID use is pervasive and varied. A prospective study looking at ibuprofen overdose noted that 30% of patients experience CNS effects ranging from drowsiness to coma. Case reports have identified numerous neurologic sequelae including ataxia, vertigo, dizziness, recurrent falls, nystagmus, headache, encephalopathy, and disorientation. Seizures have also been reported, mostly after overdose ingestions, but even therapeutic doses have occasionally been associated with seizures. One of the important neurologic side-effects attributed to the use of NSAIDs is aseptic meningitis. The clinical signs of drug-induced meningitis are similar to those of infectious meningitis and include fever, headache, photophobia, and stiff neck. The laboratory findings are also similar, including cerebrospinal fluid (CSF) pleocytosis of several hundred or thousand cells, mainly neutrophils, elevated levels of protein, normal or low glucose levels and negative cultures. Drug-induced meningitis is a transient disorder with an excellent prognosis. Most or all drugs used for the treatment of headache, including NSAIDs, may cause a condition known as medication overuse headache - a refractory chronic daily headache that tends to resolve following discontinuation of the analgesics. Reye's syndrome is a rare severe illness occurring mainly in children and adolescents and characterized by abnormal liver function, vomiting, and encephalopathy, with a mortality rate approaching 40%. The pathogenesis is currently unknown, but commonly the syndrome is preceded by a viral episode, with an intermediate latent period of 3-5 days. An association with aspirin use is strongly suggested. Aspirin, the classic and most commonly used NSAID, has a well-documented effect in inhibiting intravascular clotting, thus reducing the occurrence of ischemic strokes and other vascular events. NSAIDs, however, have a double impact on coagulation. On the one hand, most agents inhibit the synthesis of thromboxane in the platelets, thereby inhibiting coagulation. On the other hand, they also inhibit the production of prostacyclin by endothelial cells, resulting in a prothrombotic state. Selective inhibition of COX-2 by drugs such as rofecoxib (Vioxx) and valdecoxib (Bextra) results in specific inhibition of synthesis of prostaglandins participating in inflammation and was found to lead to vascular complications including an increased risk for stroke. The connection between inflammation and neuronal degeneration is well established. Most studies, including the prospective Rotterdam study, have found an inverse correlation between the use of NSAIDs and the risk for dementia. Two meta-analyses have found 40% and 25% reduction, respectively, in the risk of Alzheimer's disease among NSAID users. However, some large, well designed studies failed to confirm these results, and some even found that NSAID use is associated with cognitive decline. The clinical impact of NSAIDs on Parkinson's disease (PD) remains unclear. While some studies showed that chronic NSAID use is protective against PD, other studies could not confirm the existence of a significant relationship. A recent meta-analysis indicated that the use of non-aspirin NSAID, particularly ibuprofen, reduces the risk of PD by 15% while the use of aspirin did not show any effect.
...
PMID:Nonsteroidal anti-inflammatory drugs exposure and the central nervous system. 2436 21


1 2 Next >>