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Query: UMLS:C0162671 (MELAS)
 587 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present the results of a longitudinal study of the neurobehavioral disturbances seen in K.S., a 22-year-old female patient with a mitochondrial cytopathy (MELAS) caused by the novel mutation C8293T. K.S. became ill in 1994 at the age of 16. She was referred for diagnosis to several different clinics. Four years after onset, the clinical diagnosis was established in the Department of Medical Rehabilitation at the Cracow Rehabilitation Center; the diagnosis was not confirmed until six years after onset, following the discovery of the mutation in the patient's mtDNA at Columbia University. Since 1996 the patient has presented with progressive dementia and periodic stroke-like episodes that produced fluctuating neurological symptoms. The essential pathomechanism of the neurobehavioral disturbances consists in the fragmentation of complex cerebral processes into their constituent elements; individual functions are frequently correctly executed on a lower level of cerebral organization, but the patient is unable to combine them into a sensible whole. The authors discuss the theoretical and clinical significance of the results presented here.
Neurol Neurochir Pol
PMID:[Pathomechanism and clinical presentation of neurobehavioral disturbances in a patient with MELAS syndrome]. 1178 10

Basilar-type migraine (BTM) is a type of migraine with aura symptoms resulting from brain stem or bi-hemispheric structures but without motor elements. There are no precise data on the frequency of BTM. The main cohort of the patients includes young people and children with female predomination. The onset of the disease usually occurs before the age of 25. The diagnosis of BTM is based on the finding of two migraine attacks accompanied by a specific aura, with dysarthria, vertigo, tinnitus, impaired hearing, double vision, visual aura elements, ataxia of a cerebellar type, loss of consciousness, and bilateral paresthesias. In the differential diagnosis one should consider the pathology of posterior fossa, diseases with recurrent vertigo, complex epileptic seizures, CADASIL and MELAS syndromes, and alternative hemiplegic migraine with cerebellar symptoms and signs. In the prophylaxis sodium valproate and calcium-entry blockers and, especially in the prophylaxis of vertigo, betahistine chloride are used.
Neurol Neurochir Pol 2005
PMID:[Basilar-type migraine: pathophysiology, symptoms and signs, and treatment]. 1641 73

Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented. We observed proliferation and/or pleomorphism of mitochondria in skeletal muscle and smooth muscle cells of arterioles, as well as in pericytes of capillaries. Paracrystalline inclusions were found only in damaged mitochondria of skeletal muscle. Genetic testing revealed a point mutation in A3243G tRNALeu(UUR) typical for MELAS syndrome. We conclude that differentiated pathological changes of mitochondria in the studied types of cells may be associated with the different energy requirements of these cells.
Pol J Pathol
PMID:Pathology of mitochondria in MELAS syndrome: an ultrastructural study. 2902 53