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 21-year-old woman with an unusual, progressive, degenerative neurological disorder is described. The disorder is characterized clinically by behavioral abnormality, peculiar involuntary movements, and ataxia starting in early childhood and subsequent development of dementia, choreoathetosis, rectal and bladder incontinence, bulbar and spinal muscular weakness, pes cavus, kyphoscoliosis, and generalized seizures. The clinical manifestations are correlated, with widespread pathological changes affecting almost all neuronal systems. The pathological changes are discussed in relation to the wide spectrum of "multisystem atrophies." Particular attention is directed to the ubiquitous occurrence of a novel intranuclear, eosinophilic, hyaline inclusion in almost all types of central, peripheral, and autonomic neurons. The ubiquitous neuronal involvement seems to explain the diffuse multiple system degeneration. The pathogenesis of the neuronal inclusions is unknown, but it is speculated that the disorder may represent a metabolic abnormality affecting the nuclear protein of neurons, rather than a viral infection. The pathological features, consisting of the neuronal intranuclear hyaline inclusions associated with multiple system atrophy, have not hitherto been described, and "neuronal intranuclear hyaline inclusion disease" is proposed as a name for the disorder. Rectal biopsy demonstrating the intranuclear hyaline inclusions in ganglion cells of the hyenteric plexuses may serve as a diagnostic procedure for the disorder.
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PMID:An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease). A clinicopathological study of a case. 615 79

A chronic experimental allergic encephalomyelitis (EAE) has been produced in rabbits sensitized with bovine white matter proteolipid apoprotein. Eleven of 12 animals developed clinical disease one to six months after immunization with a single dose of the apoprotein. The clinical course was characterized by posterior ataxia, flaccid paralysis progressing to spastic paralysis, and incontinence. Spontaneous relapses and remissions were observed in 3 rabbits. Histologically, acute and chronic encephalomyelitis accompanied by primary demyelination were observed. Serum antibody production, assayed by both an enzyme-linked immunosorbent assay and an electroblot procedure, did not correlate with either the clinical course or the histopathological findings. Delayed hypersensitivity to proteolipid apoprotein was observed in all rabbits prior to the onset of clinical signs. The data suggest that lymphocytes specifically sensitized to the proteolipid may be involved in the pathogenesis of the demyelination in chronic EAE.
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PMID:Chronic experimental allergic encephalomyelitis produced by bovine proteolipid apoprotein: immunological studies in rabbits. 618 48

Twelve Lewis rats were inoculated with a guinea pig spinal cord tissue preparation. They developed experimental allergic encephalomyelitis (EAE) after 12-14 days, manifested by weight loss, tail flaccidity, ataxia, hind limb paresis and incontinence. The CNS lesions are produced in this animal model on the basis of inflammatory demyelination, which provides a useful model for multiple sclerosis. Concomitantly with EAE, all animals developed vestibular hyperreactivity (VH) of otolith and canal reflexes. In surviving animals these reflexes renormalized after full clinical recovery. The major effect on the canal response was an increased duration of postrotatory nystagmus caused by an increase in time constant. These findings are similar in part to those previously reported in patients with multiple sclerosis.
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PMID:Physiological abnormalities in experimental allergic encephalomyelitis (EAE). I. Vestibular hyperreactivity (VH) in rats with EAE. 633 52

A 76 year old patient with a long history of headaches was found to have Paget's disease and communicating hydrocephalus. There were (otherwise) no neurological or musculo-skeletal manifestations of Paget's disease, but moderate impairment of intellectual function was present. Treatment with disphosphonates did not bring any significant improvement, but three days following a ventriculo-atrial shunting procedure, the patient became headache-free for the first time in several years. In the literature, patients with hydrocephalus have been shown to respond quite unevenly to atrio-ventricular shunting, but in most instances the descriptions concerned advanced cases with well-established symptoms of dementia, ataxia and incontinence. Our case is reported to stress the importance of early diagnosis and management of hydrocephalus in Paget's disease for the prevention of widespread neurological dysfunction.
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PMID:Hydrocephalus and headaches in Paget's disease of the skull: complete relief by ventriculo-atrial shunt. 670 97

Seventeen patients with Friedreich's ataxia or spastic ataxia were subjected to an urodynamic evaluation. Fifty-three per cent (53%) of the patients presented with urinary symptoms consisting of urgent micturition and urgency incontinence. Cystometric evaluation showed a lack of inhibition of the detrusor in 7 patients (41%). Abnormal electric hyperactivity of the external sphincter was documented in 6 cases (37.5%) by electromyography. Some hypotheses are presented to explain the etiology of these abnormal findings.
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PMID:Urodynamic evaluation of patients with hereditary ataxias. 710 78

A chronic, progressive form of experimental allergic encephalomyelitis was produced by immunization of rabbits with bovine brain white matter proteolipid apoprotein. Clinical signs appeared 4 to 13 months after sensitization, and were characterized by ataxia and limb paresis which progressed to flaccid paralysis and incontinence. Light and electron microscopic observations showed both acute and chronic nonsuppurative myelitis or encephalomyelitis accompanied by primary demyelination. Myelin damage was most evident in the spinal cord but was also present in the optic nerve and brain. The neuropathology was consistent with lesions of chronic experimental allergic encephalomyelitis produced by central nervous system tissue, and resembled lesions of multiple sclerosis as well. These observations suggest that protein may be involved in the pathophysiology of demyelinating diseases. A mechanism for the chronic course of the disease is discussed.
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PMID:Chronic experimental allergic encephalomyelitis induced in rabbits with bovine white matter proteolipid apoprotein. 710 65

A 66-year-old man was admitted with 2-year history of progressing gait difficulty and speech disturbance. His neurological examination on admission demonstrated dysarthria, truncal ataxia, mild foot weakness and emotional incontinence. Computerized tomography revealed enlarged ventricle with marked brain stem atrophy. Cerebral angiography showed 90% stenosis of left upper vertebral artery, 90% stenosis of mid basilar artery, occlusion of right upper vertebral artery and 50% stenosis with ulcer of right cervical carotid artery. Right cervical carotid endarterectomy was carried out with continuous electroencephalography (EEG) monitoring. Post-operative course was uneventful and the patient had gradual neurological improvement. This case was reported to be of help to judge the indication of such operation in effectiveness and also the value of EEG monitoring during operation.
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PMID:[Cervical carotid endarterectomy for vertebrobasilar insufficiency]. 717 35

Central pontine myelinolysis was found histologically in a young man who died with Hodgkin's lymphoma. Clinically he had developed a progressive peripheral sensory deficit, ataxia, quadriparesis, dysarthria, incontinence and drowsiness. This is the fifth case reported in the British literature. The pathogenesis and aetiology of this primary demyelinating disease are considered.
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PMID:Central pontine myelinolysis in association with Hodgkin's lymphoma. 730 76

Six patients with achondroplasia and symptoms suggestive of cervicomedullary junction compression are reviewed; these included three females and three males, with an average age of 8 years (range 7 months to 30 years). The mean duration of symptoms prior to intervention was 1.9 years. Symptoms included occipitocervical pain, ataxia, incontinence, apnea, and respiratory arrest. Radiological investigations consisted of plain films with flexion and extension views, pluridirectional tomography, thin-section computerized tomography, and magnetic resonance imaging. Typical findings included marked foramen magnum stenosis, ventrolateral cervicomedullary junction compression secondary to central and paramesial basilar invagination, and dorsal cervicomedullary junction compression secondary to ligamentous hypertrophy and invagination of the posterior atlantal arch. All patients underwent posterior fossa decompression and atlantal laminectomy. Surgery consistently revealed marked dorsal and paramesial overgrowth of the rim of the rim of the foramen magnum, with thickening and invagination of the atlantal posterior arch and a dense fibrotic epidural band resulting in dorsal cervicomedullary compression. Intraoperative ultrasonography was used to determine the extent of decompression required. Three patients required duraplasty. Three patients had concurrent hydrocephalus, two of whom had undergone ventriculoperitoneal shunting prior to surgical decompression of the posterior fossa. One patient developed a pseudomeningocele postoperatively, requiring serial lumbar punctures before it resolved. No patient developed craniovertebral instability following decompression. Improvement or resolution of symptoms was noted in all patients, with an average follow-up period of 4.8 years. Thus, cervicomedullary compression in patients with achondroplasia can be successfully treated with dorsal decompression of the craniovertebral junction. Dense epidural fibrotic bands are frequently noted in these cases and must be aggressively released to ensure satisfactory decompression.
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PMID:Cervicomedullary compression in achondroplasia. 820 26

Wolfram syndrome was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. Other neurological features subsequently emerged, and "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) became a commonly accepted acronym. Here, we describe 4 further cases from 2 families, in whom there occurred previously unrecognized neurological features, central apnea and neurogenic upper airway collapse, together precipitating primary respiratory failure (fatal in 1 case), startle myoclonus (in 2 unrelated cases), axial rigidity, and Parinaud's syndrome. Magnetic resonance images revealed striking brainstem atrophy affecting, in particular, the pons and midbrain. The mitochondrial DNA from 3 cases (and relatives) showed no evidence of any of the previously reported abnormalities. These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.
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PMID:Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. 860 54


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