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)

With the great progress in the imaging technique of cerebro-cerebellar perfusion and metabolism, it has been revealed that supratentorial cerebrovascular disorders often cause some reduction of contralateral cerebellar blood flow and metabolism. The phenomenon, termed crossed cerebellar diaschisis (CCD), is interpreted to be brought about by transneuronal deactivation of cerebellum via the corticopontocerebellar pathway and usually not to accompanied by limb-incoordination. We have experienced 2 cases presenting ataxia clinically and CCD in positron emission tomography (PET) which are thought to be caused by the interruption of two distinctive neural pathways, the corticopontocerebellar and cerebellorubrothalamic pathways. Case 1 was a 34-year-old housewife with cerebral infarction which magnetic resonance imaging disclosed in the left parietal cortex and subcortical white matter. She showed mild right-sided hemiataxia featured by dysarthria, hypermetria, dysrhythmia, decomposition, dysdiadochokinesis and rebound phenomenon. Cheirooral syndrome, a hand-pronation sign and defects of combined sensation were present on the right but not accompanied by any disturbances of deep sensation. PET with 15O-labeled CO2 and O2 demonstrated the left frontoparietooccipital and contralateral cerebellar hypoperfusion and hypometabolism. Case 2 was a 69-year-old female suffering from aftereffects of old thalamic hemorrhage. Neurological examination revealed moderate degree of right-sided hemiataxia suggesting a cerebellar type of dysfunction like in case 1. Muscle power and sensory system were well-preserved. Brain CT revealed a small and restricted low density area in the left posterolateral thalamus indicating destruction of the Vim nucleus. PET study confirmed reduced blood flow and oxygen metabolism in the left thalamus and contralateral cerebellar hemisphere.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical and etiological study of crossed cerebellar diaschisis. Report of two cases]. 261

Amyotrophic lateral sclerosis is a rapidly progressive disease of unknown etiology resulting in tetraparalysis, dysarthria, dysphagia, and ultimately death from respiratory insufficiency. In the course of the disease, recurrent episodes of aspiration, pneumonia, dehydration, and malnutrition may necessitate nasoenteral tube placement, an inconvenient and unattractive arrangement in patients with dribbling and impaired swallowing. A percutaneous endoscopic gastrostomy seemed a better, though potentially hazardous, alternative in view of the often severely restricted pulmonary function of these patients. Therefore, we prospectively investigated the use of percutaneous endoscopic gastrostomy in 68 consecutive patients with amyotrophic lateral sclerosis. Minimum required pulmonary function was defined as forced vital capacity (FVC) of 1 L or more and CO2 gas exchange capability as pCO2 of 45 mm Hg or less. The methodology of insertion was adapted to facilitate the early removal of gastric air. Fifty-five patients (median FVC, 1.7 L; pCO2, 40 mm Hg) were eligible for the gastrostomy procedure, and 13 patients (median FVC, 0.8 L; pCO2, 47 mm Hg) were not. Despite the fact that modification of the method of insertion rendered the procedure more difficult, the success rate was 89% (49/55); it was 96% (49/51) when failures related to distorted anatomy were excluded. The procedure-related mortality rate was 1.8% and the 24-hour in-hospital mortality rate was 3.6%, mainly related to respiratory insufficiency. The 30-day out-of-hospital mortality rate was 11.5%. Major complications (3.6%) consisted of a spontaneously draining cutaneous abscess in 2 cases. Peristomal redness was present in 6 cases, and 5 patients required analgesics for wound pain.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Percutaneous endoscopic gastrostomy in patients with amyotrophic lateral sclerosis and impaired pulmonary function. 792 37

We report on a 19-year-old Russian man with Friedreich ataxia with an expanded GAA repeat. The symptoms include ataxia of the trunk and lower extremities, dysdiadochokinesia of the upper extremities with left side dominance, square wave jerks, dysarthria, decreased muscle tone, areflexia, hypesthesia, decreased vibration sense and weakness in the lower extremities, extensor plantar response, skeletal abnormalies, and hypertrophic cardiomyopathy. Somatosensory Evoked Potentials elicited by median nerve stimulation suggested involvement of the central pathways, including the posterior column with lateral dominance. Sural nerve biopsy showed a marked decrease in large myelinated fibers (120/mm2) and a moderate decrease in small myelinated fibers (1430/mm2) with normal density of unmyelinated fibers. Carbon dioxide laser stimulation of the upper limbs demonstrated "C-fiber component" toward Adelta fibers and a normal component toward C fibers. Immunohistochemical staining of a skin biopsy from the lateral malleolus for protein gene product 9.5 demonstrated a normal density (18/mm) of intraepidermal nerve fibers. To our knowledge, this is the first report using CO2 laser stimulation, skin biopsy, and sural nerve biopsy that unmyelinated fibers are not involved in Friedreich ataxia.
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PMID:[Neurological findings, neurophysiological examinations, and sural nerve biopsy in a case of Friedreich ataxia]. 1706 2