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)

A 27-month-old girl suffered from severe sensory neuropathy with minimal motor dysfunction. The CSF protein level was increased and nerve conduction was severely impaired. Sural nerve biopsy specimen showed increased endoneurial connective tissue. An onion-bulb pattern with concentric interdigitations of Schwann cell cytoplasmic processes and redunbant basal laminae were prominent features under electron microscopy. Degress of myelination in individual fiber was far less than expected. Although the clinical manifestations of onion-bulb neuropathy with onset in infancy have been reported to resemble infantile progressive spinal muscular atrophy, the present case demonstrates that the condition can also appear as severe sensory ataxia.
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PMID:Sensory neuropathy with onion-bulb formation. Report of a case with onset in infancy. 64 56

Among 85 neuropathy patients admitted and studied in the Department of Neurology, University of Occupational and Environmental Health, Japan, from 1979 to 1990, four patients suffering from sensory ataxia are reported with special reference to their etiological and pathological conditions. All of them were classified as having immune-mediated neuropathy. The first patient, a 56-year-old woman, was diagnosed as having chronic progressive ataxic sensory neuropathy. Her symptoms became progressively worse over a nine-year period after onset, but no evidence of cancer has been revealed. The positive rheumatoid factor was the only other feature noted. The second patient, a 63-year-old woman, after extensive laboratory studies, including the biopsy of the lymph node at the bifurcation of the bronchus in search of the cancer, was diagnosed as having subacute sensory neuropathy with small cell carcinoma of the lung. Chemotherapy was completed without subsequent obvious clinical benefits. The clinical diagnosis was confirmed on autopsy 29 months after the onset. The symptoms of the first patient were indistinguishable from those of the second patient, especially in the early clinical stage. In both patients, the proprioceptive sensations were severely affected and the disturbance of the proprioceptive sensations seemed to be almost parallel with the ataxia signs. The main site of the lesion seemed to be the neuron in the dorsal root ganglion in the first patient, as well as in the second patient who showed a marked loss of neurons in the dorsal root ganglion considered to be the primary lesion on autopsy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Sensory ataxia in peripheral neuropathies--etiological and pathological analysis of four cases]. 132 18

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.
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PMID:Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 153 98

We report a patient with a relapsing form of the acute sensory neuropathy syndrome associated with IgM-kappa type monoclonal gammopathy of undetermined significance. He rapidly developed marked sensory ataxia without weakness following an upper respiratory tract infection at age 44. The symptoms reached their maximum in a few days, followed by subsequent gradual improvement over a few weeks. However, unsteady gait remained as a chronic deficit. Stepwise progression of his symptoms occurred over 15 years with 10 similar relapses. Sensory nerve conduction studies showed the absence of action potentials, and sural nerve biopsy revealed the marked loss of large myelinated fibers. The patient's serum had an extremely high titer of an IgM monoclonal antibody directed against gangliosides GD2, GD1b, GT1b, and GQ1b.
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PMID:Acute relapsing sensory neuropathy associated with IgM antibody against B-series gangliosides containing a GalNAc beta 1-4(Gal3-2 alpha NeuAc8-2 alpha NeuAc)beta 1 configuration. 154 41

Sensory ataxia as the chief manifestation of acute neuropathy is rather rare. Of the 224 cases of acute polyneuropathy seen over 6 years (1984-1990) only 10 patients (M:F 3:7) had disabling ataxia as the presenting feature. Their ages ranged from 14-61 years. Antecedent febrile illness was present in 6 patients and the peak deficit evolved over 2-25 days. Severe ataxia, paresthesia, distal areflexia and predominant joint sense loss were common to all, motor weakness was either absent or insignificant. CSF was acellular and revealed elevated protein in 3 subjects. All patients had electrophysiological evidence of severe sensory neuropathy with mild or no motor neuropathy. Sural nerve biopsy in one patient showed loss of large, as well as small, diameter myelinated fibres, secondary demyelination, but no evidence of inflammation. At follow up marginal to moderate improvement in ataxia was noted in only 5 patients. Absence of ophthalmoplegia and motor weakness, poor prognosis and characteristic electrophysiological and histopathological observations suggest that acute ataxic neuropathy may be a distinct entity.
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PMID:Acute ataxic neuropathy: a clinical, electrophysiological and morphological study. 166 83

A 58-year old man presented with slowly progressive spastic paraparesis, ataxia, absent ankle jerks, bladder disturbances, impairment of vibration sense and mental deterioration. Electrophysiological studies documented axonal sensory neuropathy, posterior column and optic nerve involvement. Serum tests for anti-HTLV-1 antibodies were negative but HTLV-1 proviral sequences were consistently demonstrated in white blood cell genomic DNA using the polymerase chain reaction technique. Western blot and polymerase chain reaction assays of sera and DNA from family members were negative for HTLV-1. The most likely cause of infection in this patient was a blood transfusion received 2 years before onset of symptoms. This is the second Italian case of HTLV-1 associated myelopathy and the fourth reported in white subjects living in Europe.
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PMID:HTLV-1-associated myeloneuropathy in an Italian. 195 Apr 58

A clinical, genetic and epidemiological study of hereditary ataxias and paraplegias was conducted within a defined area (Cantabria) in Northern Spain from 1974 to 1986. The series comprised 48 index cases and 65 affected relatives. On prevalence day, 103 patients were alive, giving a prevalence of 20.2 cases per 100,000. There were 24 patients (18 families) with Friedreich's ataxia (FA), 12 (6 families) with early onset cerebellar ataxia (EOCA) differing from FA, 6 (3 families) with dominantly transmitted late onset cerebellar ataxia (LOCA), 11 with 'idiopathic' LOCA, 49 (9 families) with 'pure' hereditary spastic paraplegia (HSP), and 1 patient with congenital cerebellar ataxia. The prevalence found here is comparable with the highest figures described in previous surveys. This may in part be due to the great number of secondary cases in our series. A high frequency of parental consanguinity occurred in FA patients, 'pseudodominant' inheritance being observed in 1 family. The clinical features were those of classical FA except for later onset and slower course in 1 family, and retained tendon reflexes in the lower limbs in 2 cases. Such data indicate the need for modification of the essential criteria for the disease. EOCA included 4 patients with normoreflexic ataxia and 1 patient with ataxia and luteinizing hormone-releasing hormone deficiency. In addition, there were 7 patients from 2 unrelated families with a homogeneous syndrome characterized by autosomal recessive inheritance, cerebellar ataxia, retinitis pigmentosa and sensory neuropathy. This syndrome is therefore a well defined nosological entity to be added to the list of autosomal recessive mendelian phenotypes. The clinical picture of patients with LOCA was either a 'pure' cerebellar or a 'cerebellar-plus' syndrome. Genetic subgroups of 'pure' HSP were autosomal dominant type I in 5 families and type II in 2, and autosomal recessive in 2 families.
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PMID:Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. 204 54

A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy occurred in four members of a family and was maternally transmitted. There was no histochemical evidence of mitochondrial myopathy. Blood and muscle from the patients contained two populations of mitochondrial DNA, one of which had a previously unreported restriction site for AvaI. Sequence analysis showed that this was due to a point mutation at nucleotide 8993, resulting in an amino acid change from a highly conserved leucine to arginine in subunit 6 of mitochondrial H(+)-ATPase. There was some correlation between clinical severity and the amount of mutant mitochondrial DNA in the patients; this was present in only small quantities in the blood of healthy elderly relatives in the same maternal line.
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PMID:A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 213 62

The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed photomyoclonic response in the proband patient. Muscle biopsy disclosed ragged-red fibers and abnormal mitochondria by electron microscopy. Biochemical analysis showed a defect of cytochrome C oxidase in mitochondria isolated from skeletal muscle. Several clinical and genetic aspects of the mitochondrial encephalomyopathies are discussed.
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PMID:Mitochondrial myopathy and myoclonic epilepsy. 216 73

Two patients of ataxic sensory neuropathy associated with silicosis were studied. Case 1 is a 53-year-old (in 1979) man who was a stonecutter for 40 years and diagnosed as silicosis in 1973. Case 2 is a 64-year-old (in 1984) man who was a glasscutter for 30 years and had been treated for silicosis from 1980 to 1982. Both patients developed dysesthesias in the hands, feet and face asymmetrically and gait ataxia over a few months. Vibratory and joint position senses were profoundly diminished but were accompanied by only mildly decreased pain and temperature sensations. Their muscle power was almost unchanged. Both had absent muscle power was almost unchanged. Both had absent muscle stretch reflexes. Sensory nerve conduction velocities were absent and motor nerve studies were almost normal. Nerve biopsy in case 2 showed a severe loss of large myelinaed fibers, and no inflammatory infiltrates and onion bulb formations. Although these findings suggested the carcinomatous neuropathy, we could not find any malignancy. Both patients had elevated polyclonal gamma-globulin levels and rheumatoid factors and, in case 2 an increase of IgG in serum. Cerebrospinal fluid showed an albumino-cytogenic dissociation and steroid therapy was successful in both patients. Case 1 died of pneumonia in 1989. Though an autopsy was not performed, his condition had continued to improve without signs of malignancy during 10 years. The condition of case 2 has also continued to improve, although ataxias remain.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Two cases of ataxic sensory neuropathy associated with silicosis]. 217 42


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