Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a sporadic case of periodic ataxia characterized by recurrent attacks of vertigo and ataxia. A 62-year-old male was known to have nystagmus at the age of 18. He has had recurrent episodes of vertigo and ataxia since the age of 48. During an attack remarkable downbeat nystagmus, limb ataxia predominant in the lower extremities and ataxic gait were present. MRI demonstrated an atrophy of the anterosuperior region of the cerebellar vermis. Vertical nystagmus, dysesthesia of gloves and stocking type and deep sensory disorder persisted during interictal intervals. There is no finding which supports this case to be vascular disorder, congenital anomaly, tumor, infection or demyelinating disease. We thought this case to be periodic ataxia and to belong to vestibulocerebellar ataxia reported by Farmer and his colleagues.
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PMID:[A case of periodic ataxia]. 130 26

A case of solitary syringobulbia without syringomyelia diagnosed by MRI was reported. A 63-year-old female, who had a history of progressive gait disturbance for 9 months, was admitted to our department because of severe headache. Neurological examination revealed that the patient was suffering from right pyramidal sign as well as left deep sensory disturbance without apparent impairment of cranial nerves or nystagmus. The somatosensory evoked potential stimulated by the left median nerve showed delay in latency and low amplitude, however, the auditory brainstem response showed normal records bilaterally. A syringobulbia associated with platybasia, basilar impression, obstructive hydrocephalus and Arnold-Chiari malformation was diagnosed by the neuroradiological examinations including plain X-ray films of the skull, CT scan and MRI of the brain. Subsequent to the decompression around the cisterna magna by suboccipital craniectomy and laminectomy of the atlas, the opening of the Foramen Monro which was obstructed by a thick membrane was carried out, and prevention of communication between the fourth ventricle and the syrinx was accomplished by using a piece of muscle. This operative procedure was thought to be compatible with Gardner's operation for syringomyelia. The patient showed gradual improvement of gait disturbance as well as headache 3 months after surgery, and this neurological improvement was proved by decrease in the size of the known syringobulbia on MRI, and by normalized somatosensory evoked potential stimulated by the median nerve. Pathophysiology of the solitary syringobulbia with relatively acute onset of the neurological symptoms was assumed to have taken place in the following manner.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of solitary syringobulbia]. 200 Jan 59

A rare case of syringomyelia associated with Arnold-Chiari malformation, primary IgA deficiency and sex chromosomal abnormality is reported. A 26-year-old Ethiopian black male was admitted with a complaint of hypalagesia of his left arm and face for 10 years. Neurological examination on admission revealed dissociated sensory loss of his left arm and face. Mild motor weakness of his hand and rotatory nystagmus on left gaze were also noticed. Plain craniogram of lateral view showed small posterior cranial fossa with low positioned inion and platybasia. MRI with T1-weighted images in sagittal plane revealed tonsillar herniation reaching C1 and syrinx extending from C2 to lumbar region. Although no episode of infectious disease nor allergy were experienced, blood analysis disclosed low serum level of IgA (7 mg/dl). The values of other immunoglobulins were within normal range. IgA in saliva was not detected, too. According to the clinical history and symptoms, a diagnosis is of primary asymptomatic IgA deficiency was obtained. Karyotype analysis showed inversion of Y chromosome. In an attempt to avoid anaphylactic shock on blood transfusion in a patient with IgA deficiency, autologous blood was prepared before surgery. Decompressive craniectomy of the posterior fossa with posterior arch of C1 and C2 was performed together with syringosubarachnoid shunt at Th 6-7 level. Postoperative course was successful and slight improvement of sensory disturbance was obtained. No respiratory or wound infection was occurred. The association of these three anomalies is very rare and genetical relationship is not known. From surgical point of view, it is conceivable that preoperative management in a case of asymptomatic IgA deficiency is uneventful.
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PMID:[Surgical management of syringomyelia associated with Arnold-Chiari malformation, primary IgA deficiency and chromosomal abnormality--a case report]. 213 Jul 77

A rare case of systemic lupus erythematosus (SLE) associated with lateral medullary syndrome and unilateral internuclear ophthalmoplegia was reported. A 15 year old girl was admitted to Kyushu University hospital on 2 September in 1987 because of vertigo, occular symptom, and sensory disturbance. She had noted vertigo since 28 August. On admission she had nystagmus, left Horner syndrome, sensory disturbance of left hemiface and right limbs and trunk and mild hemiparesis of right limbs. She also had a discoid erythema behind the left ear, butterfly rash on her cheek. She developed right internuclear ophthalmoplegia on 6 September. Investigations revealed biological false positive of serological test for syphilis, positive antinuclear antibodies, and prolonged APTT. Peripheral blood cell count and erythrocyte sedimentation rate were normal. There was no proteinuria. Computed tomography and magnetic resonance imaging failed to detect any lesions in the brain. Cerebrospinal fluid cell count was 20/3 and Ig-G index was 17.1%. Her neurological signs were thought to be related to SLE. Lupus anticoagulant might be responsible for the development of impairment of central nervous system (CNS). She was treated with prednisolone, initial dose of 40mg, and the symptoms and signs were improved quickly. Early diagnosis and treatment for SLE with CNS involvement is primarily important.
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PMID:[A case of systemic lupus erythematosus associated with lateral medullary syndrome and unilateral internuclear ophthalmoplegia]. 250 Oct 49

The authors reported three cases, whose vertebral arteries had been injured by blunt trauma to the neck which was followed by cerebello-brainstem infarctions. Case 1: a 32-year-old man, who developed severe vertigo and nausea 7 days after a traffic accident. He showed neck pain and horizontal nystagmus on admission. Three days later, he became drowsy. CT scan of the head demonstrated right-side cerebellar infarction, and the angiography revealed an occlusion of the right vertebral artery at C4-5 level. After the removal of the right cerebellar hemisphere, he recovered neurologically and was discharged from the hospital, able to walk. Case 2: a 47-year-old man, who suddenly became comatose 6 hours after an accident. Plain CT demonstrated a highly dense basilar artery. Angiography revealed the occlusion of the left vertebral artery, and severe stenosis of the right vertebral artery. The basilar artery was not visualized. Anticoagulant therapy was started immediately. He survived, but he developed locked-in syndrome. Case 3: a 53-year-old man, who developed transient apnea after an injury. On admission, neurological examination showed horizontal nystagmus, weakness of his right upper limb, and sensory disturbance in the left side of the body. Neck traction was done for spinal C1 and C2 fractures. Twenty-one hours after the injury, he became comatose suddenly. The four-vessels angiography revealed the occlusion of both vertebral arteries. The basilar artery was visualized through the posterior communicating arteries. He died on the 6th day after the trauma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Blunt injury of the vertebral artery: report of three cases]. 259 54

A 45-year-old Japanese man, who had had bilateral visual disturbance due to Vogt-Koyanagi-Harada (VKH) disease 17 years before entry, was admitted to this hospital because of headache, vertigo and vomiting. On examination at entry, no abnormalities except for poliosis, patches of vitiligo on his left shin, sunset glow fundus, and positional nystagmus with Frenzel glasses were found. Laboratory data other than leukocytosis and elevated level of gamma-GTP were normal and the results of brain CT scan were within normal limits. On the following day, diplopia was developed and the neurological symptoms including loss of bilateral visual acuity, Horner's syndrome on the right side, right facial palsy, bilateral sensorineural hearing disturbance, palsy of the soft palate on the right side with swallowing difficulty, and dissociated sensory disturbance on the right face and the upper and lower extremities on the left side appeared with a few days. He couldn't get up. The cerebrospinal fluid (CSF) was clear and had pleocytosis with normal sugar content. The protein, immunoglobulin G and myelin basic protein (MBP) were elevated but the tests for oligoclonal band and antiviral antibodies were negative. Brain CT scan showed low density areas in right cerebellar hemisphere and in left putamen without abnormality with contrast material and evoked potentials were normal. Prednisolone was prescribed and his symptoms were subsided but his gait remained ataxic. Magnetic resonance imaging (MRI) 4 months later showed an atrophy of the lower half of bilateral cerebellar hemisphere supplied by posterior inferior cerebellar artery, suggesting cerebellar infarction, and high intensity areas on T2 image in bilateral cerebral white matters, basal ganglia, and left cerebral peduncle.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Wallenberg's syndrome in a case of Vogt-Koyanagi-Harada disease]. 261 5

Linear fractures through the occipital bone are common, whereas depressed fractures in the posterior cranial fossa are rare because the occipital bone is protected by the surrounding thick muscles. The authors describe an unusual case of depressed fracture localized in the posterior cranial fossa associated with the syndrome of acute central cervical spinal cord injury. A 50-year-old female struck her face against the table and fell backward, while drunk, resulting in the bruise over the occipital region. Three days after injury she was transferred to our hospital because of progressive disturbance of consciousness, brain stem dysfunction and tetraplegia. Neurological examination on admission showed that she was drowsy, had tetraplegia and could not speak. However, she could obey commands only by moving her eyes and the ocular movements were normal in all directions except for horizontal nystagmus. Plain skull x-ray revealed a conspicuously depressed fracture in the posterior cranial fossa, but cervical spine x-ray showed neither fracture nor dislocation. Immediately suboccipital craniectomy was done and there were a thin subdural hematoma on the cerebellar surface, cerebellar contusion, and subarachnoid hemorrhage around the cisterna magna. Soon after operation impaired consciousness and paraplegia were improved, but recovery of both arms was delayed. Five months after injury, she still had left IX, X and XI nerve paresis, bilateral arm weakness, dysarthria, swallowing disturbance and bilateral sensory disturbance below C4 level. These findings indicated that she had sustained brain stem and cerebellar compression by the depressed fracture and also had suffered an acute central cervical spinal cord injury.
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PMID:[Unusual case of depressed fracture of the posterior cranial fossa associated with the syndrome of acute central cervical spinal cord injury]. 374 92

An autopsy case of hereditary spastic ataxia is reported. There are four family members with similar symptomatology through three generations. A 36-year-old man developed atactic gait at the age of 22 years, with following dysarthria, scanning speech, pyramidal signs, dysmetria, dysdiadochokinesia, nystagmus and mild sensory disturbance. The clinical course was steadily progressive and terminated about 14 years after the onset. The gross examination showed smallness of the brain stem and spinal cord with marked symmetrical atrophy of the anterior and lateral columns, especially at thoracic level. Histologically, pronounced degeneration was found in the anterior and posterior spino-cerebellar tracts, spino-thalamic tracts, and spinal ganglia. The olivary nuclei, pons and cerebellum were spared. The dentate nuclei showed considerable loss of neurons with degeneration, however there were no clinical signs related to this pathology. This case is considered to fall in the group of hereditary spastic ataxia according to Greenfield's classification, however, there was no report on degeneration of the dentate nucleus in this disease for the present. Hereditary spastic ataxia is very rare disease and only four cases have well been documented in our country to the best of our knowledge. The presence of nystagmus and superficial sensory disturbance, and sparing of the posterior column of the spinal cord seems to be common clinico-pathology in Japanese cases, differing from those of foreign cases. The fact that reactive astrogliosis was immunohistochemistry demonstrated in the degenerative regions of the spinal cord and where is no discrepancy between degenerative and reparative processes as reported before is stressed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of hereditary ataxia (hereditary spastic ataxia)]. 404 Dec 92

We presented a rare care who had right frontal lobe infarction, with left side pseudoataxia, and the mechanism, causing pseudoataxia, was considered. The patient, a 51 year-old, righ-handed male, was admitted on August 9, 1980, complaining of left-side pseudoataxia. About p.m. 7:00, July 29, 1980, he suddenly noticed numbness of the left foot, and he found himself difficulty in standing in the next morning. He had a mild paresis and tactile-tactile of the left side including the face, which was rapidly improved. However, there was pseudoataxia of the left extremities, which had not been improved. On physical examination, dysarthria, aphasia, finger agnosia, difficulty in right left orientation or muscle weakness was not recognized, and there was no sensory disturbance except for slight impairment of stereognosis, two point discrimination and vibratory sense. Demonstrable impairment of tactiletactile from was observed in the left hand. Notable dysmetria, terminal tremor and dysdiadochokinesia were seen in the left limbs, which were remarkably worsened with eyes closed. However, tapping and line-drawing tests were normal. Babinski-Weil's test disclosed typical compass gait. There was marked swaying in Romberg position. Tandem gait was impossible with a tendency to decline the left. Deep reflexies were normal except for mildly hyperactive radial reflex in the left. Carotid and vertebral angiographies revealed neither evidence of vascular occlusion nor displacement of vessels CT scan demonstrated a low density area, which included the right inferior and middle frontal gyri, the head of the right caudate nucleus and a part of anterior crus of right internal capsule. There was enlargement of anterior horn of the right lateral ventricle. Caloric test, electronystagmography, eye tracking test or optokinetic nystagmus test disclosed no abnormalities. Vibration induced falling, which is the postural reaction to muscle vibration during standing (Ekuland, G., 1972), was not recognized when the left Achiles' tendon was stimulated. Pseudoataxia of this patient differed from the typical cerebellar or vestibular ataxia. From a review of the literatures concerning frontal pseudoataxia, almost all cases had no distinct cerebellar signs, and showed positive Romberg's sign. The impairment of tactile-tactile form and postural reaction to vibratory stimulation to the left leg, appeared in this case, could be hardly explained by the lesion of parietal lobe or deconnection syndrome. Sensory perception of parietal lobe and pyramidal motor system were thought to be almost normal in this case. Therefore, these findings should be due to impairment of integration center between sensory and motor systems. The pseudoataxia in frontal lesion seems to occur as the results of involvement of this center, in which caudate nucleus maybe has important role, but not as the results of disturbances in the front-ponto-cerebellar or front vestibular pathway.
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PMID:[Frontal pseudoataxia, discussion on its mechanism (author's transl)]. 732 87

Horizontal and vertical small-field optokinetic nystagmus (OKN) were examined in persons with strabismic or anisometropic amblyopia. Reduced velocity for the slow phase of OKN driven by temporalward and upward target motion presented monocularly was observed in both the amblyopic and nonamblyopic eyes of some subjects. Several experiments were conducted in search of a sensory disturbance of perceived motion sensitivity which could account for the abnormal OKN. Comparisons between the frequency response for OKN and the contrast sensitivity function for perceived motion revealed that amblyopes with asymmetric OKN had equal sensitivity to nasal and temporal target motion. Contrast thresholds for driving the temporal slow phase of OKN were elevated by over 1 log unit above contrast thresholds for perceived temporal target motion, whereas contrast thresholds for stimulating nasal movement and driving the nasalward slow phase of OKN were equal. Contrast sensitivity to nasal and temporal target motion was symmetrical at the fovea and parafovea of the amblyopic eye. These studies did not reveal a sensory a /mso observed in both eyes of persons with congenital strabismus without amblyopia and in the nondeprived eye in monocular congenital cataract. These observations suggest a relationship between directional asymmetries of OKN and the incomplete development of binocular vision.
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PMID:Disturbances of small-field horizontal and vertical optokinetic nystagmus in amblyopia. 738 Jun 25


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