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)

Chronic progressive hepatocerebral degeneration with spastic paraparesis, dementia, dysarthria, ataxia, tremor, and neuropsychiatric symptoms follows long-standing portal-systemic shunting, is associated with structural changes in the central nervous system, and does not respond to conventional therapy for hepatic encephalopathy. A case of advanced chronic liver disease with severe, progressive hepatocerebral degeneration after 23 yr of portal-systemic shunting is reported in whom there was significant objective improvement in intellectual function and in the chronic neurological signs 3 mo after orthotopic liver transplantation and further improvement 12 mo after transplantation.
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PMID:Improvement in chronic hepatocerebral degeneration following liver transplantation. 231 62

We have studied an unusual, spontaneous, intradural extramedullary spinal cord tumor in 12 dogs. Animals presented with paraparesis and ataxia early in life (11/12 ranged from 6 to 38 months of age) suggesting that these tumors may be congenital. Various breeds of dogs were represented with four cases in German Shepherds and three in retrievers; there was no sex predisposition. Post-mortem examinations revealed a single intradural mass consistently located between T10 and L2, which produced extensive compression of the spinal cord. Metastasis was never observed and significant pathological changes in other organs were lacking. Microscopic examination revealed solid sheets of ovoid to fusiform cells interspersed with areas of acinar and tubular differentiation. Some areas were rarified and focal squamous metaplasia was observed. Ultrastructural features included the presence of a continuous basal lamina, junctional complexes, microvilli and occasional cilia at the apices of acinar complexes. Immunocytochemical studies did not support a neurectodermal origin. At least 13 case reports of this entity have been previously published and have been designated ependymomas, medulloepitheliomas and neuroepitheliomas. A recent case was diagnosed as a nephroblastoma and we feel that this is an interesting and provocative diagnosis. These tumors could result from remnants of renal primordium which becomes trapped between the dura and the developing spinal cord. However, firm evidence of such a histogenesis is not yet at hand.
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PMID:A novel intradural extramedullary spinal cord tumor in young dogs. 245 49

We describe 19 cases of a familial syndrome consisting of infantile optic atrophy and an early movement disorder in which chorea predominated. About one-half the patients developed spastic paraparesis during the second decade of life. Ataxia and cognitive deficits were common, usually of mild degree. Seventeen of the patients were females. Sixteen had similarly affected siblings, but none had affected parents. All but one belonged to the Iraqi Jewish community in Israel, giving a minimal prevalence rate in this ethnic group of about 1:10,000.
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PMID:A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. 249 68

Various types of associated movements of eyeballs with other cranial muscles have been described in the literature. Only a few observations, however, have been reported on the relation of ocular movements and facial muscles innervated by the facial nerve, especially the orbicularis oculi muscles. We report two cases presenting gaze-evoked involuntary contraction of the orbicularis oculi muscle and unilateral eyelid closure. Case 1 was a 38-year-old housewife who was admitted to our hospital because of gait disturbance and sensory deficits below the neck. She had a 5-year history of left facial palsy, disturbed horizontal eye movements, retrobulbar optic neuritis, spastic paraparesis and bladder and rectal disturbances, some of which had relapsed a few times. Neurological abnormalities were summarized as follows: bilateral pale discs, right Horner's sign, horizontal nystagmus, left facial nerve palsy of peripheral type, spastic paraparesis with left-sided predominance, sensory disturbances below the third cervical segment, truncal and limb ataxia, and bladder and rectal disturbances. Gaze-linked synchronized contraction of the left facial muscles was observed and on the left lateral gaze marked spasm of the left orbicularis oculi muscle with occasional lid closure was evoked. Case 2 was a 72-year-old female with cerebellar hemorrhage. Neurological abnormal findings included mild disorientation, meningeal irritation signs, horizontal nystagmus on lateral gaze, reduced response of reflex eye movement to the left, minimal weakness of the left facial muscles, ataxic dysarthria, mild left hemiparesis and hemisensory deficits with face, truncal and limb ataxia. She could move eyeballs to any direction but with effort to the left.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Gaze-evoked eyelid closure. Report of two cases]. 261 99

Spinocerebellar degeneration (SCD) is associated with other various degeneration of the nervous systems such as the optic tract, pyramidal pathway, extrapyramidal system, nuclei of the brain stem and autonomic nervous system as well as changes of heart. The clinical pattern, also have the great variability. We investigated the mode of progression of clinical symptoms and signs in 214 cases of SCD which were examined 2 times at intervals of about 10 years. 79 of 214 cases were reported to be died at the last examination. 135 alive cases included 3 with the Holmes type, 14 with late cortical cerebellar atrophy (LCCA) 10 with Menzel type, 18 with olive-ponto-cerebellar atrophy (OPCA), 33 with spinocerebellar form (SCF), 6 with Friedreich's ataxia, 18 with hereditary spastic paraparesis (HSP) and 33 with the other type. 79 dead cases included 0 with the Holmes type, 6 with LCCA, 5 with Menzel type, 32 with OPCA, 16 with SCF, 1 with Friedreich's ataxia, 4 with HSP and 15 with the other type. The disability of daily living in SCD revealed slower progression in the advanced stage than in the early stage. Every type of SCD had some different progression of disability each other. In the early stage, Friedreich's ataxia showed the highest progression of disability, but in the advanced stage, Holmes type and the OPCA did. Holmes type showed progression of ataxia without any remarkable change of other systems. LCCA showed increase of abnormality in the eye movements, pyramidal tract and autonomic nervous system in addition to the cerebellar system. OPCA involved multiple systems as ataxia worsening, but Menzel type had no remarkable changes of incidence in eye movement disorder.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Analysis of follow-up survey in spinocerebellar degeneration]. 275 38

T-cell lymphoma may involve the CNS as either a primary or secondary neoplasm. This report describes 8 patients with either primary or secondary T-cell malignancies in the CNS. Five patients presented with symptoms and signs of CNS disease that included seizures, visual impairment, cranial nerve palsies, sensory and motor deficits, gait ataxia, and paraparesis. Three of them had primary parenchymal CNS lymphoma, and 2 had epidural lymphoma that originated in adjacent bone marrow. Three patients were neurologically asymptomatic, but had leptomeningeal tumor and focal parenchymal infiltration at postmortem examination. Histologically, 4 lymphomas were large cell, 3 were mixed large and small cell, and 1 could not be classified by the working formulation for non-Hodgkin's lymphomas. The clinical and pathologic manifestations of T-cell lymphoma in the CNS may be diverse. This report demonstrates that neurologic abnormalities may be the presenting signs of either primary CNS or systemic T-cell lymphoma.
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PMID:T-cell lymphoma in the CNS: clinical and pathologic features. 278 32

We report two patients with chronic encephalomyelitis due to Borrelia burgdorferi in whom the definite diagnosis was delayed because of atypical clinical features. The first patient presented with chronic spastic paraparesis, slight ataxia and nystagmus of several years' duration. A tentative diagnosis of multiple sclerosis was made in spite of important abnormalities of the CSF biological characteristics. The second patient presented with an acute aphasia and a bilateral Babinski's sign. He was thought to suffer from benign herpetic meningoencephalitis. Several months later, as the patient experienced relapses with cerebellar and spinal cord involvement, falsely positive tests for syphilis were found and an antibiotic treatment was given. High protein content, low glucose levels, pleocytosis and oligoclonal bands were observed in all CSF samples, but the definite diagnosis was based on the detection of serum and CSF antibodies against B. burgdorferi.
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PMID:[Borrelia burgdorferi encephalomyelitis]. 318 97

This investigation was undertaken to study the clinical manifestations, development and course of the Norrbottnian type of Gaucher disease--a type III variant--with emphasis on central nervous system symptomatology and function, to correlate clinical signs with laboratory, neuropathological and biochemical findings, to evaluate effects of splenectomy on the course and severity of the disease and to investigate the effect of bone marrow transplantation. Clinical methods applied were neuropaediatric follow-up examinations, psychometric tests and motor age tests. Conventional neurophysiological, haematological and clinico-chemical methods were used. The investigation comprised 22 patients, 10 girls and 12 boys, in all of whom the clinical diagnosis was confirmed by enzymatic tests. The median age at diagnosis was 1.9 years. The clinical pattern at diagnosis was usually that of an alert child with normal intelligence, short stature, splenomegaly, a tendency to bleeding and ocular manifestations. The course was slowly progressive but varied considerably between patients. The median age at death in a representative group of patients was 11.8 years. Early motor development was delayed in the lower limbs but normal in the upper. Eight patients later developed ataxia and six patients signs of mild spastic paraparesis which usually appeared many years after splenectomy. IQ tended to decrease with age. Early splenectomy resulted in lower IQ scores than late splenectomy. With progression of the disease, EEG abnormalities became increasingly frequent, more markedly among splenectomized patients. Thirteen patients had abducens nerve weakness and ten had age dependent abnormalities of horizontal gaze. Retinal infiltrates were characteristic, mainly among splenectomized patients. At, autopsy, Gaucher cell accumulations were found in the adventitia of brain venules, most frequently in cerebral and cerebellar subcortical white matter. Intraneuronal storage of glucosylceramide was observed. The highest concentrations of glucosylceramide were in the cerebellum and cerebral subcortical white matter of splenectomized patients. The fatty acid composition of glucosylceramide from these regions indicated an extracerebral origin in splenectomized patients, but mainly cerebral in nonsplenectomized. Psychosine was found, the highest concentrations in cerebral and cerebellar cortex. Bone marrow transplantation was performed in a nine-year old girl. A three-year follow-up showed very encouraging results both biochemically and clinically. The Norrbottnian type of Gaucher disease is a well defined nosological entity with a characteristic course and clinical manifestations.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Gaucher disease--Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment. 329 44

We report a family with branchial myoclonus, spastic paraparesis, and cerebellar ataxia in which six members were affected in two generations and the inheritance appeared to be autosomal dominant. Age at onset ranged from 40 to 50 years. Rhythmic myoclonus involving the palate, pharynx, larynx, and face was followed by truncal ataxia and spastic paraparesis in most patients. CT and MRI revealed mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord. The pons appeared normal and the olives not hypertrophic. CSF studies revealed severe reduction of the serotonin metabolite 5-hydroxyindoleacetic acid. Treatment with 5-hydroxytryptophan and carbidopa at highest tolerated dose mildly improved ataxia but did not modify the myoclonus. Treatment with anticholinergics, benzodiazepines, phenytoin, valproate, carbamazepine, and baclofen was unsuccessful. The clinical symptoms were progressive, leading to death or severe disability 5 to 10 years after the onset of the disease.
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PMID:Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: a new autosomal dominant disorder. 335 13

Treatment of a panmedullary ependymoma involved a three-stage operation with total excision under microscopic control and the use of the Cavitron. The patient, a 22 year old woman, presented with a three-year history, with clinical onset of staged spinal pain and cervicobrachial neuralgia, of spasmodic paraparesis with sensory and sphincter disturbances. The extent of the lesion from C3 to L2 was determined from data from conventional myelography with Iopamiron, a CT scan with intrathecal contrast and nuclear magnetic resonance imaging of sagittal and frontal sections. The tumor, a grade I ependymoma, was treated by three-stage laminectomies (L2-T12, T12-T3, T3-C3), total excision being obtained by ultrasound fragmentation (Cavitron). Gross pathology showed a heterogeneous appearance with two cysts, one capping the tumor from the bulbospinal junction to C3, the other attached to the medullary cone. Hemorrhagic cavities were noted at cervicothoracic region and multiple microcysts in the dorsal expansion. The postoperative course was uneventful with recovery of walking wearing a bivalve acrylic corset, the most disturbing functional complication being the posterior cord syndrome responsible for an ataxia.
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PMID:[Panmedullary ependymoma with complete excision in several stages. Apropos of a case]. 382 26


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