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)

Clinical features of 74 patients with neurosyphilis and 38 syphilitic patients with nonsyphilitic neurologic disorders were correlated with results of their serum and cerebrospinal fluid (CSF) VDRL and FTA tests, and with the WBC count and total protein level in the CSF. The most common clinical features in those having neurosyphilis were reflex changes (53.9%), peripheral neuropathy (44.5%), ataxia (38%), and cranial nerve palsies (24.3%). In 27% of the patients with neurosyphilis the CSF was VDRL-reactive, while in 77% the CSF was FTA-reactive. The frequency of elevated WBC counts in various serologic categories ranged from 23% to 46%, and the frequency of elevated protein levels ranged from 23% to 27%; neither the mean WBC count nor the protein level differed significantly among the different serologic categories (P less than .05). Only two of the 74 patients with neurosyphilis had elevation of both the WBC and protein level. None of the syphilitic patients without neurosyphilis had an elevated WBC or protein level, though the CSF was FTA-reactive in all 38. Among the neurosyphilis patients whose CSF was VDRL-nonreactive but FTA-reactive, 21% had an elevated protein level and 26% had an elevated WBC count. These results support the view that patients having neurosyphilis will not necessarily have either VDRL-reactive CSF or the other expected CSF abnormalities.
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PMID:Diagnosis of neurosyphilis: a critical assessment of current methods. 335 68

A 19-year-old woman with long-standing sensorineural deafness, bilateral cataracts and mild clumsiness, presented with acute focal edema in the left temperoparieto-occipital area which required surgical decompression as a life-saving measure. Investigation revealed a persistent lactic acidemia and evidence of many ragged red fibres in a skeletal muscle biopsy specimen, suggesting a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. The patient developed two further stroke-like episodes over a short period. One sibling died at the age of 14 years with a progressive neurological illness characterised by seizures, bilateral optic atrophy, ataxia, myoclonus and progressive dementia. The diagnosis of MELAS syndrome should be considered in young people presenting with stroke-like episodes that fail to conform to a given vascular territory, particularly if they have long-standing minor neurological abnormalities or a family history of obscure early onset neurological disease. The different clinical pictures in the two affected siblings in this family suggest that MELAS syndrome is part of a spectrum of inherited mitochondrial cytopathies rather than a discrete disease entity.
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PMID:Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 339 2

A late-onset neurological disease has been identified in a substrain of C57Bl/6 mice. The disorder is characterized by hindlimb weakness and ataxia starting at 5-11 months of age, progressing to severe spastic paralysis of all limbs, with premature death. Histopathology reveals degeneration of upper and lower motoneurons. Both sexes are affected; the mice are fertile, although breeding efficiency is reduced. In outcrosses to wild-type, symptoms have been observed in all obligate heterozygotes, with a similar age range for onset to that of homozygotes. We have designated this autosomal dominant disorder Motor neuron degeneration (Mnd).
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PMID:Autosomal dominance in a late-onset motor neuron disease in the mouse. 378 18

An outbreak of a neurological disease in pigeons caused by avian paramyxovirus type I occurred in the New York metropolitan area in 1984. It was characterized clinically by head tremors, paresis of the wings and legs, ataxia, torticollis, and loose droppings. Clinical pathologic evaluation revealed anemia and elevated plasma transaminase enzymes. Mortality was virtually 100% in juvenile pigeons, whereas the adults generally experienced much lower morbidity and mortality.
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PMID:Avian paramyxovirus type I infection in pigeons: clinical observations. 383 25

We found that the rate of progression of two adult hereditary neurologic disorders (dominant ataxia and Huntington disease) correlated inversely with the age at onset. The earlier the onset, the more rapid the course; the later the onset, the slower the course. Alzheimer disease/senile dementia followed a similar pattern. The rate of progression of a nonhereditary progressive neurologic disorder, ALS, showed the opposite trend.
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PMID:Progression rate and age at onset are related in autosomal dominant neurologic diseases. 621 73

A neurological disease which selectively affects the primary sensory pathways was observed in 4 dogs. Clinical signs were dominated by ataxia due to impaired position sense. Deficient or abnormal pain sensation was also observed. Difficulty in eating probably arose from oral and lingual sensory deficit. The lesions were characterized by degeneration and loss of central and peripheral primary sensory axons, with a predilection for large myelinated fibres. The concept of a sensory neuronopathy was supported by the finding of neuronal degeneration and loss in dorsal root ganglia seen in 2 dogs. The cause of the disease is not known. The presence of mononuclear inflammatory cells in acute lesions suggests an infectious or autoimmune disease. Toxic and genetic factors are also to be considered.
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PMID:Sensory neuronopathy in dogs: a study of four cases. 630 21

One strategy for deciphering inherited neurological disease is to examine the expression of individual genes controlling the assembly and physiology of specific cell groups within the developing mammalian central nervous system (CNS). This neurogenetic approach, using defined single-locus mutations arising on coisogeneic mouse strains, has recently been used to analyse a major class of neuronal membrane diseases involving abnormal excitability, the epilepsies, and to identify examples of hereditary variation in signalling properties at central synapses. An interesting mutation, the Tottering (tg) gene, causes a delayed onset, recessive neurological disorder in the mouse featuring a stereotyped triad of ataxia, intermittent myoclonus and cortical spike-wave discharges accompanied by behavioural absence seizures which resemble petit mal epilepsy. Axon branches of the locus coeruleus, a noradrenergic brain-stem nucleus, hyperinnervate specific target regions of the tg brain. The number of parent coerulean perikarya is unaffected, indicating a true proliferation of the terminal axonal arbor. With the exception of this unusually precise error of axonal growth, no other cytopathology has been identified in the tg brain. Here I present evidence that selective lesions of the central noradrenergic axons early in development limit the expression of the disease.
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PMID:A single gene error of noradrenergic axon growth synchronizes central neurones. 646 26

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.
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PMID:Acute cerebellar ataxia in pediatric legionellosis. 664 29

Two siblings with classic transferase deficiency galactosemia that was detected at birth have been treated with lactose restriction since the neonatal period. Both patients developed a unique and progressive neurologic syndrome of mental retardation, tremor, and ataxia. Careful review of the family history and medical records, the absence of metabolic disturbances other than those related to galactosemia, and the aggregate physical findings and neurodiagnostic studies ruled out other neurologic disorders in these siblings. It is therefore proposed that these patients represent a subgroup of transferase-deficient galactosemic patients, who develop characteristic neurologic sequelae with conventional dietary management. The existence of this subgroup should be considered in evaluations of therapeutic responses in cohorts of patients with galactosemia. Further, galactosemia should be included in the differential diagnosis of tremor and ataxia in the setting of mental retardation.
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PMID:Curious neurologic sequelae in galactosemia. 670 Oct 54

The occurrence of annual ryegrass toxicity (ARGT) in sheep and cattle is reported for the first time in South Africa. To date it has been diagnosed conclusively in South African Mutton Merino sheep on a farm in the Caledon district and in cattle on 3 farms, 2 of which are situated in the Bredasdorp district and 1 in the Ceres district. It is a neurological disease characterized by symptoms of tremor, ataxia, intermittent epileptiform seizures, nystagmus, opisthotonus, abortions and high mortality. The history, clinical signs and experimental reproduction of the disease as well as the pathology of 4 experimental and 10 natural cases in sheep and 2 in cattle are described.
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PMID:First report of annual ryegrass toxicity in the Republic of South Africa. 734 92


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