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

Ataxia telangiectasia (AT) is a hereditary disease that involves both the immune and nervous system; its pathogenesis is believed to be due to disturbances in DNA repair system. Because children are usually affected, reports concerning adult patients are rare. In the present study, we performed comprehensive clinical, histological, and radiobiological examinations on two adult female siblings, currently 23 and 19 years old. The initial symptom was an ataxic gait, which began in the elder sister at the age of 20 and the younger sister at the age of 18. Both had mild telangiectasia in the bulbar conjunctiva and auricula. The neurological manifestations of both were gaze nystagmus, cerebellar ataxia, hyporeflexia, and vibratory sensation disturbance. Only the elder sister showed stocking type sensory disturbance. The MRI of both patients revealed cerebellar atrophy, especially in vermis. After either X-ray irradiation or bleomycin treatment, fibroblast survival curve showed a marked, dose-dependent declined in both patients compared with normal controls. Similar patterns were observed in both patients. After bleomycin treatment, no differences in the survival ratio of cultured fibroblasts could be found between these adult patients and those observed in younger children with classic AT. Biopsied sural nerves showed a decrease in the number of large myelinated fibers, with a few myelinated axons having relatively thin myelin. There were severe atrophic changes, with regenerative myelinated fibers in the elder sister. In conclusion, both adult patients with delayed onset AT displayed similar bleomycin hypersensitivity in fibroblasts as would be expected in children with AT. Radiobiological examinations and sural nerve biopsy suggest that both disturbed cellular regeneration and atrophic process may play a role in the neural involvement in this disease.
 ...
PMID:[Histological and radiobiological study on adult cases with ataxia telangiectasia]. 751 54

A 32-year-old woman experienced subacute onset of weakness in her left leg, urinary retention and difficulty in extending her right middle and third finger. She subsequently suffered episodes of myelopathy, optic neuritis and cerebellar ataxia over a period of several years. Brain MRI showed multiple areas of high signal intensity on T2-weighted images, consistent with multiple sclerosis (MS). However spinal MRI revealed no abnormal findings. In her most recent episode, at age 40 she developed paraparesis. Neurologic examination revealed down beat nystagmus on gazing to the right, horizontal jerk nystagmus gazing to the left, weakness of the right middle and third fingers and paraparesis associated with spasticity of the right leg. Sensory disturbance below C3 and diminished vibration and position sense in both legs were also observed. The patient could not stand or walk, and urinary disturbance was present. Spinal MRI revealed syrinx formation at the level of vertebral bodies C2 to C6. The syrinx within the cervical cord diminished in size after four months, but the patient was unable to walk unaided and had moderate sensory disturbance as before. This finding suggests that the prognosis of MS with syrinx formation following repeated episodes of myelopathy is not always favorable. We believe that functional recovery in MS with syringomyelia is affected by the severity of the demyelination and/or gliosis caused by MS rather than by the presence of the syrinx.
 ...
PMID:[Multiple sclerosis with syringomyelia--case report]. 813 3

The authors present the clinico-pathological findings in a member of a family residing in Akita Prefecture located in the north-eastern region of Japan. Four members in three generations of the family developed ataxia. The autopsied patient was a 42-year-old woman, who, at the age of 25, had developed progressive cerebellar ataxia with pyramidal spasticity and increased deep tendon reflexes predominant in the lower extremities. However, she retained fine movement of the hands and fingers and showed no dysarthria until the age of 35. She could no longer walk unassisted at 38 years old. She showed cerebellar ataxia in both hands and legs, dysarthria, bulging eyes, progressive extraoculomotor palsy with nystagmus, bradykinesia, sensory disturbance, and dystonia in the face, upper extremities, and fingers. Deep tendon reflexes were decreased, especially in the lower extremities. Subacute generalized muscular atrophy developed at the age of 39. She became bedridden and died of pneumonia. The clinical diagnosis was Type-2 of the entity known in Japan as Machado-Joseph disease. At neuropathological examination, the brain weight was 1,250 g. The spinocerebellar system including Clarke's column and the spinocerebellar tracts were degenerated, but the cerebellar cortex and inferior olivary nucleus were spared. Slight-to-moderate degeneration was observed in the pontocerebellar system. In the dentate nucleus, most of the neurons showed what is known in Japan as "grumose degeneration", but there was no neuronal loss or gliosis. The hilus of the dentate nucleus and the superior cerebellar peduncle were intact.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[An autopsied case of type 2 Machado-Joseph's disease or spino-pontine degeneration]. 821 97

We report a patient whose clinicopathological findings are compatible with those of the case reported by Menzel in 1891. This case was briefly reported by Kinoshita et al in 1967 as hereditary ataxia of Menzel type. But the concept of this disease has been confused, especially in the early investigations for the hereditary olivo-ponto-cerebellar atrophy (OPCA) in Japan. The Kinoshita's patient should be considered as the first Japanese case whose findings are identical with Menzel's report. This report represents a precise study of the case reported by Kinoshita et al. The patient was a 42-year-old Japanese woman. Her mother and one of her brothers suffered from the same disease. She began to experience progressive ataxia at the age of 30. At age 42, she was admitted to another hospital because of inability to walk and mental deterioration. Neurological examination revealed cerebellar ataxia in the extremities and trunk, childish personality change, dementia, diminished deep tendon reflexes with extensor plantar response bilaterally, slowness and hypokinesia in the movement, generalized muscular atrophy, and sensory disturbance prominent in deep sensory. She had no involuntary movement and dysautonomia. She had no retinal degeneration, nystagmus, nor progressive nuclear oculomotor palsy. She died of pneumonia. Neuropathological findings revealed brain weight of 850g.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[An autopsied Japanese case of hereditary olivo-ponto-cerebellar atrophy compatible with the original one of Menzel's report (1891)]. 833 24

We report a 56-year-old man who developed progressive paraparesis. He was apparently well, except for left Bell's palsy which developed on May 9 of 1994, for which he received stellate ganglion block on the left side more than ten times until July 2nd of 1994, when he noted pain in his left shoulder and in his lumbar region. On July 5th, he noted some difficulty in urination. On July 6th, he noted tingling sensation in his four extremities and difficulty in gait. He was admitted to another hospital where he was treated with intravenous infusion of glycerol. After this treatment, his gait and sensory disturbance showed some improvement, however, on July 7th, his shoulder and lumbar pain worsened, and he became unable to stand. His temperature went up to 39 degrees C on the next day. Lumbar CSF on that day contained 119 cells/microliters, 112 mg/dl of protein, and 53 mg/dl of sugar. He was transferred to our hospital on July 14th. His past medical history revealed that he had suffered from frequent bouts of osteomyelitis since the age of 13 years. He was operated on several times on osteomyelitis. He had been treated on his tooth ache until shortly before the onset of the present illness. He also received steroid hormone for his Bell's palsy. On admission, his consciousness varied from alert to stupor. His BP was 150/100 mmHg, HR 98/min and regular, BT 39.4 degrees C. The bulbar conjunctiva appeared somewhat icteric. Otherwise, general physical examination was unremarkable. On neurologic examination, there was no apparent dementia. Higher cerebral functions appeared intact. The optic discs were flat. Pupils were round and isocoric reacting to light and accommodation promptly. Ocular movements were full without nystagmus. Some exophthalmos was noted bilaterally. The sensation of the face and facial muscles were intact. The remaining cranial nerves also appeared intact. Nuchal rigidity was present. He was unable to stand or walk. Muscle strength was markedly diminished in all four limbs; manual muscle testing revealed 1 to 2/5 weakness in both upper and lower extremities bilaterally. Muscle stretch reflexes were decreased or lost in both upper and lower limbs, but the plantar response was extensor on the right. Sensation appeared to be diminished in legs, but detail was not clear because of disturbance of consciousness. Pertinent laboratory findings were as follows: WBC 12,800/microliter, GPT 58 IU/l, total bilirubin 2.65 mg/dl, and CRP 16.8 mg/dl. Cerebrospinal fluid contained 34 cells/microliter (approximately two thirds were neutrophils), RBC 1,110/microliter, 2,949 mg/dl of protein, and 119 mg/dl of glucose; stapylococcus aureus was cultured from the CSF. Myelogram showed a filling defect in the anterior epidural space between the low thoracic and the upper lumbar region. The patient was treated with cephotaxim, aminobenzyl penicillin, and chloramphenicol. On the second hospital day, his BT was still 39 degrees C and he was agitated His weakness was worse than the previous day. Spinal MRI was attempted; as he was agitated 5 mg of diazepam was given intravenously at 4 PM. His respiration was rapid and somewhat shallow. At 6 PM, gadolinium DTPA was injected intravenously; at that time, he was breathing and pupils were 3 mm on both sides. At 6:35 PM, an examiner noted that he stopped breathing; the left pupil was dilated to 5 mm. Cardiopulmonary resuscitation was initiated immediately, and intubation was performed. He was placed on a respirator. His blood pressure did not reach 100 mmHg; he was in deep coma. Cardiac arrest occurred at 8:53 AM on the next morning. The patient was discussed in a neurological CPC. Most of the participants thought that the patient had either spinal epidural empyema or spinal subdural abscess. The question was what might be the original focus of infection. Three possibilities were considered, i.e., stellate ganglion block, teeth infection, and osteomyelitis...
 ...
PMID:[A 56-year-old man with fever, backache and tetraparesis]. 896 86

Dizziness of cortical origin is the subjective correlate of a disturbance of spatial orientation resulting from cerebrocortical dysfunction. Cortical dizziness in the form of vertigo is rare. If present, it most probably reflects a dysfunction of a vestibular representation in the insula. It may be accompanied by tinnitus, sensory disturbance and possibly also spontaneous nystagmus. The dysfunction of this region may result either from a focal seizure or from a lesion, for instance due to ischemia. Nondirectional, visual dizziness is most probably much more common than vertigo. This latter type of dizziness results from a functional disturbance of those parts of parietooccipital cortex, contributing to the discrimination of self-induced and externally-induced retinal image slip. It is not accompanied by additional symptoms and should immediately cease upon closure of the eyes or avoidance of ego motion.
 ...
PMID:[Cortical vertigo]. 941 72

We report a 40-year-old man with hypertension and diabetes mellitus, who had crossed oral-pedal sensory disturbance in lateral medullary infarction. He suddenly developed dysesthesia in the right mount and the left leg. His blood pressure was 150/90 mmHg. Neurological examination showed Horner's sign in the right eye and horizontal nystagmus. Sensory function revealed decreased temperature, hypalgesia and dysesthesia in the right mouth and the left leg. Vibratory and position sense were normal. T1- and T2-weighted images disclosed a low and high signal intensity area in the lateral portion of the right medulla oblongata, respectively. Brain and neck MRA using time-of-flight sequence revealed no obvious abnormal structures. We have diagnosed him as lateral medullary infarction. The unique topography of sensory dysfunction thought to be attributed to a far-lateral lesion in the medulla oblongata. Our patient suggests that lateral medullary infarction causes variable patterns of sensory disturbance. Thus, lateral medullary infarction should be warranted when we encounter patients with miscellaneous distribution of sensory impairment, such as crossed mouth-foot hypalgesia.
 ...
PMID:[Sensory disturbance of crossed oral-pedal topography in a case of lateral medullary infarction]. 984 55

A 60-year-old hypertensive woman had a pontine hemorrhage that caused slight right hemiplegia, deep sensory disturbance on her right side and dysarthria. Three months after the stroke, she was transferred to our hospital for rehabilitation. Approximately 6 months later, she gradually began to complain of the visual oscillation. Continual, unceasing conjugate vertical/rotatory eye movements were observed. Fixation was momentary at best because of an inability to dampen the spontaneous eye movements. Electrooculography (EOG) showed bilateral vertical/rotatory sinusoidal eye movements of 2.5 Hz frequency and 10- to 35-degree amplitude. Both vertical and horizontal optokinetic nystagmus were absent. Caloric stimulation did not evoke any responses bilaterally. There were no rhythmical movements at similar frequencies in other parts of the body such as palatal myoclonus. MRI revealed not only hematoma mainly at the dorsal pontine tegmentum but also hypertrophy of the inferior olive nucleus, suggesting disruption of the central tegmental tract. Lesions of this tract may be one cause of pendular nystagmus. Several drug therapies were investigated for the nystagmus. There was no response to baclofen 15 mg. Trihexyphenidyl 4 mg was discontinued because of drug-induced hallucinations. Tiapride 600 mg and phenobarbital 90 mg were each slightly effective in reducing both frequency and amplitude of nystagmus. Treatment with clonazepam 1 mg resulted in the striking disappearance of nystagmus. She was aware of this and no longer experienced oscillopsia. Despite the visual benefit, however, the patient did not wish to continue this drug because of drowsiness and muscle relaxation. The potential long-term therapeutic application of clonazepam should be further investigated. To our knowledge, there have been no reports of successful treatment in acquired pendular nystagmus with clonazepam. Therefore, based on this favorable experience, it is suggested that clonazepam should be added to the list of potential therapies for pendular nystagmus.
 ...
PMID:[Acquired pendular nystagmus after pontine hemorrhage]. 1065 2

We reported a case of simultaneous medullary hemorrhage and hematomyelia. A 93-year-old woman, who had hypertension, was admitted to our hospital because of headache, numbness and weakness of the left extremities, and somnolence. On admission, weakness and disturbance of tactile sensations were observed in the left extremities. Magnetic resonance imaging showed medullary hemorrhage and hematomyelia and these two lesions were separated. Medullary hemorrhage was at the left dorsal paramedian area within mid-lower medulla oblongata, and hematomyelia was at the left side of the gray matter from medullo-cervical junction to upper cervical cord. Five days later from admission, weakness occurred in the right lower extremity and also in the upper extremity. This process suggested that the main lesion of tetraparesis was medullo-cervical junction. Review of 16 cases of medullary hemorrhage demonstrated that frequent neurological signs were palatal weakness, nystagmus, and disturbance of pain and temperature sense. But our case showed only disturbance of tactile sensations. Review of 19 cases of hematomyelia demonstrated that frequent neurological signs were sensory disturbance, paralysis and localized pain. Our case showed only paralysis. The cause of simultaneous hemorrhage was considered arteriovenous malformation or simultaneous multiple hypertensive hemorrhages.
 ...
PMID:[A case of simultaneous medullary hemorrhage and hematomyelia]. 1065 65

We reported here three infants aged 11 to 12 months who, according to their parents, suddenly became unwilling to stand up. All the patients had barely achieved the ability to stand or to walk at the time of the illness. The symptom developed relatively acutely in the winter months from 1997 to 1998 with a probable preceding infection. On examination, no paralysis of the lower extremities was observed, and muscle weakness was minimal. There were neither violent tremors, nystagmus, nor sensory disturbance. Orthopaedic disorders were considered unlikely. Biochemical examinations of the serum were not diagnostic, and imagings of the central nervous system were normal. Spinal tap revealed mild cerebrospinal fluid pleocytosis in two of the patients. All the children showed almost complete recovery without any medication during the following period of 2 days to 2 months. Although no definite signs of ataxia were recognized in the three patients, a diagnosis of acute cerebellar ataxia was considered to be appropriate. Mild, infantile acute cerebellar ataxia may be overlooked because of the obscure complaints of the parents and the difficulty in performing a thorough neurological examination of infants.
 ...
PMID:[Three infants who suddenly became unwilling to stand up presumably due to acute cerebellar ataxia]. 1100 38


<< Previous 1 2 3 Next >>