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

The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23-24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).
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PMID:Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. 835 38

Pancreatic encephalopathy (PE) is a rare complication of acute pancreatitis. Our study reports 2 cases of patients with pancreatic encephalopathy, hospitalized and treated in the Intensive Care Unit of the Military Hospital of Instruction Mohammed V, Rabat. Patient age ranged between 43 and 54 years, our 2 cases involved a woman and a man. The pathophysiologic process of EP is still not well understood, many assumptions have been described in the literature; some authors have suggested that lipase and phospholipase A2 are involved in the pathological process of PE. Other factors including infections, fluid and electrolyte disturbances, hypoxemia and perturbations in blood glucose can be triggers. The diagnosis of pancreatic encephalopathy is easy to establish, clinical symptoms usually include confusion, amazement and psychomotor agitation, sometimes associated with neurological damages such as convulsions, headache, transient hemiparesis, dysarthria, difficulties in verbal expression and amnesia. Paraclinical tests, including brain MRI and electroencephalogram allow a definitive diagnosis. Treatment is primarily symptomatic aiming to fight against factors favoring the onset of neurologic signs using resuscitative measures based on severity of the situation. The prognosis depends on the severity of acute pancreatitis and its complications. In our study data are broadly comparable to those currently published by the majority of authors.
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PMID:[Pancreatic encephalopathy: about 2 cases and review of the literature]. 2829 9