“Myo-cardiomyopathy” is commonly associated with the A8344G “MERRF” mutation

The objective of the study was to better characterize the clinical phenotype associated with the A8344G “MERRF” mutation of mitochondrial DNA. Fifteen mutated patients were extensively investigated. The frequency of main clinical features was: exercise intolerance and/or muscle weakness 67 %, respiratory involvement 67 %, lactic acidosis 67 %, cardiac abnormalities 53 %, peripheral neuropathy 47 %, myoclonus 40 %, epilepsy 40 %, ataxia 13 %. A restrictive respiratory insufficiency requiring ventilatory support was observed in about half of our patients. One patient developed a severe and rapidly progressive cardiomyopathy requiring cardioverter-defibrillator implantation. Five patients died of overwhelming, intractable lactic acidosis. Serial muscle MRIs identified a consistent pattern of muscle involvement and progression. Cardiac MRI showed non-ischemic late gadolinium enhancement in the left ventricle inferolateral part as early sign of myocardial involvement. Brain spectroscopy demonstrated increased peak of choline and reduction of N-acetylaspartate. Lactate was never detected in brain areas, while it could be documented in ventricles. We confirm that muscle involvement is the most frequent clinical feature associated with A8443G mutation. In contrast with previous reports, however, about half of our patients did not develop signs of CNS involvement even in later stages of the disease. The difference may be related to t...
Source: Journal of Neurology - Category: Neurology Source Type: research

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Authors: Schep LJ, Slaughter RJ, Glue P, Gee P Abstract Cannabis is one of the most widely used recreational drugs in the world. Tetrahydrocannabinol (THC) is the psychoactive principal constituent of the cannabis plant (Cannabis sativa). It is taken either orally or by inhalation, resulting in sedation, euphoria, relaxation and loss of social inhibition. Adverse effects from higher doses can include fear, distrust and a profound state of unease, hallucinations, ataxia, stupor and seizures. Long-term use can result in respiratory and cardiovascular toxicity and has been associated with a range of psychiatric condit...
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
Authors: Kim JS, Hong SH, Kim WS PMID: 33029988 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Kim EH, Shim WH, Lee JS, Yoon HM, Ko TS, Yum MS Abstract BACKGROUND AND PURPOSE: Recent quantitative neuroimaging studies of childhood absence epilepsy (CAE) have identified various structural abnormalities that might be involved in the onset of absence seizure and associated cognitive and behavioral functions. However, the neuroanatomical alterations specific to CAE remain unclear, and so this study investigated the regional alterations of brain structures associated with newly diagnosed CAE. METHODS: Surface and volumetric magnetic resonance imaging data of patients with newly diagnosed CAE (n=18) an...
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Seo JG, Cho YW, Kim KT, Kim DW, Yang KI, Lee ST, Byun JI, No YJ, Kang KW, Kim D, Drug Committee of Korean Epilepsy Society Abstract The incidence and prevalence of epilepsy are highest in elderly people, and the etiologies of epilepsy in the elderly differ from those in other age groups. Moreover, diagnosing and treating epilepsy in elderly people may be challenging due to differences in clinical characteristics and physiological changes associated with aging. This review focuses on the pharmacological treatment of epilepsy in elderly patients. PMID: 33029960 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
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Source: Spine - Category: Orthopaedics Tags: DIAGNOSTICS Source Type: research
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Source: Epilepsy and Behavior - Category: Neurology Source Type: research
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Source: Seizure - Category: Neurology Source Type: research
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