Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of spontaneous pontine hematoma in young boy, with remitting and relapsing clinical course of up to 11 years, suspected of having pontine glioma or multiple sclerosis is reported. Differential diagnosis of these are mentioned with reference to our cases of pontine glioma. This patient was a man aged 16. At 5 years of age he had his first episode of double vision. 20 days after first episode, gait disturbance, left facial palsy and consciousness disturbance developed. Neurological and neuroradiological examination revealed a pontine glioma and radiotherapy was administered. All signs and symptoms resolved except for bilateral abducens palsy. Four months later, he again complained of gait disturbance and facial palsy. Examination revealed bilateral conjugate ocular palsy, left facial palsy and cerebellar ataxia. These symptoms again resolved spontaneously, except for bilateral abducens palsy. At age 16 years, having been asymptomatic for 10 years, he suddenly noticed loss of taste. At that time sensory disturbance of the left side of himself, right hearing disturbance, dysarthria and retardation urinae. Neurological examination revealed bilateral optic atropy, bilateral abducens palsy, left facial palsy, right hyperacuisis, dysarthria, left hemiparesis, hypesthesia of the left side of the body and left cerebellar ataxia. The vertebral angiography was no evidences of mass lesion and vascular anomalies. The computed tomography demonstrated a pontine hematoma. Conservative therapy was performed and these symptoms cleared off except for bilateral abducens palsy.
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PMID:[A case of spontaneous pontine hematoma in patient suspected of pontine glioma and multiple sclerosis (author's transl)]. 72 72

Autosomal dominant olivopontocerebellar degeneration was diagnosed in a family of Scottish ancestry by clinical examination and autopsy. In addition to having progressive cerebellar ataxia, head titubation, and severe dysarthria, the patients are unable to initiate saccadic eye movements. Slow pursuit movements are normal. Reflex movements of the eyes caused by passive rotation or caloric labyrinthine stimulation are not impaired but are not associated with nystagmus. The phenomenon can be classified as supranuclear pseudo-ophthalmoplegia. It differs from congenital ocular motor apraxia in age at onset and the absence of random eye movements. The anatomic lesion responsible for the defect of saccadic eye movements remains to be established.
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PMID:Supranuclear ophthalmoplegia in olivopontocerebellar degeneration. 94 71

Twelve members of a family with hereditary cerebellar ataxia of late onset were examined and, in 5, quantitative recording of eye movements were obtained. The initial and most severe symptom in all patients was ataxia of gait, followed by dysarthria and later by dysmetria of the limbs. Clinical examination did not reveal involvement of structures other than the cerebellum. Ocular motor examination showed: (1) inability to hold eccentric gaze resulting in gaze-paretic nystagmus; (2) downward beating nystagmus, accentuated on lateral gaze; (3) defective smooth pursuit, with relative preservation of optokinetic nystagmus induced by full-field stimulation; (4) rebound nystagmus; (5) enhanced gain (eye velocity/head velocity) of the vestibulo-ocular reflex during rotation in darkness; (6) decreased ability to suppress the vestibulo-ocular reflex during fixation of an object rotating with the patient; (7) saccadic dysmetria, especially downward overshoot; and (8) square wave-jerks. Although each of these signs can probably occur with lesions elsewhere in the brain, in combination they are highly suggestive of cerebellar involvement. With the reservation that we do not yet have pathological confirmation of the location of our patients' lesions, our results support the suggestion that the cerebellum specifically: (1) helps maintain eccentric gaze; (2) produces smooth pursuit eye movements; and (3) modulates the amplitude of saccadic eye movements. Many of the characteristics of the altered vestibulo-ocular responses and rebound nystagmus could be explained by the underlying anomaly in the smooth pursuit system.
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PMID:Ocular motor abnormalities in hereditary cerebellar ataxia. 99 Aug 97

An account is given of a form of hereditary, cerebellar ataxia and photomyoclonus. Eight cases from 5 generations were affected. The disease seemed to be transmitted as an autosomal dominant trait. The age at onset usually varied between 35 to 40 years. The symptoms and signs consisted of a cerebellar ataxia, dysarthria and intention tremor. There was no nystagmus. All patients exhibited photomyoclonus and were extremely sensitive to photic stimuli. Other signs were dementia, kyphosis, pes cavus and lipoma localized in the nape of the neck, shoulders and back. Two patients had a partial syndrome with photonyoclonus and skeletal deformities. None of the patients suffered from epilepsy, In one case, histopathological examination revealed atrophy within the cerebellar cortex, dentate nucleus and the posterior columns of the spinal cord. It is concluded that this syndrome belongs to a groups of hereditary ataxias and myoclonus, and differs from myoclonic cerebellar dyssynergia (Ramsay Hunt) and alos from a variety of familial myoclonus and ataxia (Gilbert et al. 1963);
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PMID:Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. 113 Jan 71

The authors systematized the descriptions of different ataxic degenerative syndromes associated with the development of pyramidal symptomatology. Demonstrated the genetic pleomorphism of hereditary spastic ataxias, described the clinical features characteristic of different types of inheritance of spastic ataxias. Based on the authors' observations and analysis of the reported data the following criteria for the diagnosis "spastic ataxia" are suggested: autosomal dominant inheritance type, with the onset on the 3rd-4th decade of life, cerebellar ataxia and dysarthria coupled with tendinous hyperreflexia and the rise of the muscular tone by the spastic type.
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PMID:[Clinical polymorphism and genetic heterogeneity of hereditary spastic ataxia]. 133 96

A 73-year-old man was admitted with gait disturbance and dysarthria. He showed right-side cerebellar ataxia. Computed tomography of brain showed left thalamic bleeding. Nine months later, he was admitted again because of seizure and consciousness disturbance. He had a history of diabetes mellitus and gout for five years, but no hypertension. On physical examination the lungs and heart were normal. On neurological examination, he showed stupor,pupils and eye position were normal. He showed right hemiparesis and urinary incontinence. The deep tendon reflexes were (+) at the upper limbs and (2+) at the right knee and ankle. Blood pressure was 162/88 mmHg and glucose was 275 mg/dl. Other laboratory data were normal. Brain CT showed hemorrhage of the left frontal lobe. The cystatin C level in cerebrospinal fluid was 68 ng/ml. Therefore we suspected cystatin C deposit amyloid angiopathy. In this case, thalamic hemorrhage was initially thought to be amyloid angiopathy. In cases of cerebral hemorrhage in the elderly without hypertension, we must be considered amyloid angiopathy.
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PMID:[A case of recurrent cerebral hemorrhage considered to be cerebral amyloid angiopathy by cerebrospinal fluid examination]. 143 57

A 55-year-old female with progressed dementia, cerebellar ataxia was reported. There was no family history of the same symptoms although her brothers, sisters and a son showed hypoceruloplasminemia and decrease of the serum copper content. On physical examination, anemia, dementia, dysarthria, torticollis, choreic involuntary movement of respiratory muscles, hyperreflexia in extremities and cerebellar ataxia were noted. Blood analysis revealed microcytic hypochromic anemia, diabetes mellitus, decrease of copper content of the serum and urine. Serum ferritin concentration was increased. Serum ceruloplasmin could not be detected. Biopsy of the liver showed that copper content in the liver was slightly increased and iron content was remarkably increased. On MRI study, dentate nucleus of the cerebellum, the thalamus, the putamen and the caudate nucleus and the liver showed low intensity in both T1 and T2 weighted images. Based on increased iron content in the liver, the radiological findings of the brain suggested deposition of iron in the brain. This deposition was considered as caused by deficiency of function of ceruloplasmin as ferroxidase. This disorder is suggested as a new disease due to ceruloplasmin deficiency different from Wilson's disease.
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PMID:[A case of ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain]. 145 25

We reported here a 64-year-old man with a central apnea resulted from unilateral medullary infarction. He was admitted because of cerebellar ataxia, dysarthria and dysphasia of abrupt onset. After the injection of diazepam for alcohol forbidden syndrome, he induced complete apnea and required the endotracheal intubation. At the spontaneous respiration under room air, his arterial blood gas showed hypercapnea without hypoxemia, and he fell into severe hypoventilation when hypnotic drug was injected. Respisomnogram revealed the frequent presence of central apnea both while he was awake and asleep. MRI demonstrated an abnormal high intensity area on T2 weighted image at the right lateral medulla just below the ponto-medullary junction. At autopsy, areas of the infarction were limited within the right lateral medulla, including lateral portion of the medullary reticular formation, the ambigual nucleus, one part of the solitary nuclear complex, the inferior cerebellar peduncle and the spinal trigeminal nucleus. However, the dorsomotor nucleus of vagus was completely free from the infarct lesion. There was no other lesion within central nervous system. Such a distribution seemed the minimal extent of the lesion responsible for central, apnea compared to the previous reports. We suggest that central apnea occurs not infrequently in the cases of Wallenberg's syndrome.
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PMID:[Central type of sleep apnea syndrome caused by unilateral lateral medullary infarction]. 145 29

A patient with hepatitis B virus-associated cirrhosis manifested various symptoms such as anemia, renal damage and neurological signs including cerebellar ataxia due to long-term administration of germanium-containing food. The patient was a 40-year-old male who had taken germanium containing mineral cheese for 26 months after he was diagnosed as having cirrhosis. Twenty four months after beginning to take the mineral cheese, he began manifesting paresthesia of the extremities, dysarthria and gait ataxia. Laboratory findings revealed anemia and renal damage. Biopsy of the peripheral nerve revealed loss of the large sheathed nerve, a characteristic feature of germanium intoxication. A high concentration of germanium (GeO2) was detected in patient's hair and urine. Cerebellar ataxia was characteristic in this patient, which was not reported in the previous papers.
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PMID:[A patient with liver cirrhosis manifesting various symptoms including cerebellar ataxia due to germanium intoxication]. 155 52

A 38 year-old laborer experienced solvent intoxication during each of two spray paintings of a dump truck and other heavy equipment in an enclosed, unventilated garage. The paint base consisted primarily of toluene and methyl ethyl ketone. Nausea, headaches, dizziness, respiratory difficulty and other symptoms began after exposures. Over the next several days he developed impaired concentration, memory loss and cerebellar signs including an intention tremor, gait ataxia and dysarthria. MRI of the brain and EGG early in the work-up were normal, although later MRIs demonstrated fluid collection over the left parietal area. Examination by a toxicologist and neurologist revealed likely toxic encephalopathy with dementia and cerebellar ataxia. Three formal neuropsychological assessments over 2 1/2 years quantified cognitive, motor and behavioral changes. Despite similar findings in chronic exposure to these solvents, lasting sequelae following acute exposure have not been widely reported.
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PMID:Chronic neuropsychological and neurological impairment following acute exposure to a solvent mixture of toluene and methyl ethyl ketone (MEK). 174 49


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