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MELAS Syndrome: How Stroke-like are the Stroke episodes? (P1.255)
Conclusions:Patients with MELAS syndrome may present with recurrent strokes in the arterial territory rather than SLEs. Clinicians should entertain the possibility of a mitochondrial disease in young patients with cryptogenic stroke and pursue appropriate diagnostic evaluations and treatment.Disclosure: Dr. Liaw has nothing to disclose. Dr. Lewis has nothing to disclose. Dr. Saini has nothing to disclose. Dr. Gultekin has nothing to disclose. Dr. Koch has nothing to disclose. Dr. Asdaghi has nothing to disclose.
Source: Neurology - April 17, 2017 Category: Neurology Authors: Liaw, N., Lewis, R., Saini, V., Gultekin, S. H., Koch, S., Asdaghi, N. Tags: Genetic Stroke Syndromes, Biomarkers, and Translational/Basic Research Source Type: research

Clinical and radiologic reversal of stroke-like episodes in MELAS with high-dose L-arginine
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome (MT-TL1 gene) is a progressive neurologic disorder with stroke-like episodes (SLEs), which are recurrent neurologic deficits resembling vasoocclusive strokes.1 However, SLEs are not restricted to vascular territories and have a predilection for the occipital and posterior parietal and temporal cortices,2 may evolve subacutely over hours to days,3 and have greater potential for reversibility.4 Their pathophysiology is incompletely understood. Current literature suggests a combination of neuronal mitochondrial energy failure and cereb...
Source: Neurology - July 13, 2015 Category: Neurology Authors: Siddiq, I., Widjaja, E., Tein, I. Tags: MRI, Other cerebrovascular disease/ Stroke, Mitochondrial disorders; see Genetics/Mitochondrial disorders, All Pediatric CLINICAL/SCIENTIFIC NOTES Source Type: research

Detection of Presymptomatically Latent Lesions Developing into Stroke-Like Episodes by Arterial Spin-Labeling Perfusion MRI in MELAS Patients (P03.162)
CONCLUSIONS: These findings suggest that regional ASL hyperperfusion in the presymptomatic phase precedes the appearance of upcoming stroke-like lesions, and that presymptomatic SEs had already occurred several months before the onset of clinical symptoms. ASL imaging has great potential for detecting presymptomatic stroke-like lesions and predicting the emergence of SEs.Supported by: In part by Grants-in-Aid for the Scientific Research on Innovative Areas from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Young Scientists (B) from the Japan Society for the Promotion of Science, and the Re...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Ikawa, M., Kimura, H., Muramatsu, T., Matsunaga, A., Tsujikawa, T., Yamamoto, T., Kosaka, N., Kinoshita, K., Yamamura, O., Hamano, T., Nakamoto, Y., Yoneda, M. Tags: P03 Cerebrovascular Disease III Source Type: research

Genetic Variation within the Oxidative Phosphorylation Pathway in Stroke and Alzheimer's Disease (P6.334)
Conclusions: OXPHOS genetic variation influences clinical status and neuroimaging intermediates of AD. OXPHOS genetic variants associated with stroke are also linked to AD progression.CONCLUSIONS: OXPHOS genetic variation influences clinical status and neuroimaging intermediates of AD. OXPHOS genetic variants associated with stroke are also linked to AD progression.Disclosure: Dr. Biffi has nothing to disclose. Dr. Sabuncu has nothing to disclose. Dr. Desikan has nothing to disclose. Dr. Nick has nothing to disclose. Dr. Salat has nothing to disclose. Dr. Rosand has received personal compensation for activities with Boehri...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Biffi, A., Sabuncu, M., Desikan, R., Nick, S., Salat, D., Rosand, J., Anderson, C. Tags: Aging, Dementia, and Cognitive and Behavioral Neurology: Imaging Source Type: research

Evaluation of Clinico-radiological, Molecular and Histological Diagnosis of m.3243A>G-related MELAS Syndrome (P2.259)
CONCLUSIONS: Our data suggest that SLE phenomenology is much more uniform than purported in the literature. These findings highlights the importance of a comprehensive clinical examination including detailed visual field evaluation and consideration of m.3243A>G in all cases of stroke and encephalopathy irrespective of age, gender or family pedigree with an unrecognised high recurrence rate within first year of initial presentation. Aggressive mangement of seizure is advocated to prevent ensuing SLE. Study Supported by:Disclosure: Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Schaefer has nothi...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Ng, Y. S., Gorman, G., Schaefer, A., Taylor, R., McFarland, R., Turnbull, D. Tags: Cerebrovascular Disease and Interventional Neurology: Genetics and Stroke Source Type: research

Mitochondrial Encephalopathy with Lactic Acidosis and Stroke (MELAS) presenting as an apparent neoplastic process (P5.015)
CONCLUSION: MELAS can mimic more common disorders. The slow onset of her symptoms and the MRI's appearance led to suspicion for neoplasm. This is the first report to our knowledge where MELAS has presented as such. Documentation of this and other unusual presentations of mitochondrial disease is crucial to appropriate diagnosis of the condition.Disclosure: Dr. Rothstein has nothing to disclose. Dr. Haq has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Rothstein, A., Haq, I. Tags: Aging, Dementia, Cognitive, and Behavioral Neurology ePosters Source Type: research

Brain Herniation Due To Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke Like Events (MELAS) With 3256 Mutation Responsive To Decompressive Craniotomy (P6.257)
CONCLUSIONS:In our MELAS case, decompessive craniotomy is life saving for brain herniation due to SLE. Headache refractory to narcotics and increased lactic acid level are early warning signs of acute SLE since MRI can be normal. Steriod might be indicated for acute treatment of cortical edema.Disclosure: Dr. Cui has nothing to disclose. Dr. Schwendimann has received research support from Lundbeck.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Cui, C., Schwendimann, R. Tags: Cerebrovascular Disease and Interventional Neurology: Case Reports Source Type: research

Late adult onset MELAS, presenting as non-convulsive status and atypical strokes. (P2.257)
CONCLUSIONS: Adult-onset strokes due to MELAS have rarely been described and are usually suspected in the setting of recurrent strokes. Our patient was diagnosed at her initial attack because of her unique presentation. We believe that MELAS should be considered in all adult patients presenting with atypical strokes and seizures.Disclosure: Dr. Raval has nothing to disclose. Dr. El-Ghanem has nothing to disclose. Dr. Hillen has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Raval, B., El-Ghanem, M., Hillen, M. Tags: Cerebrovascular Disease and Interventional Neurology: Genetics and Stroke Source Type: research

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
Conclusion: Homoplasmic mutations in the MT-ATP6/8 genes may cause episodic weakness responding to acetazolamide treatment.
Source: Neurology - November 18, 2013 Category: Neurology Authors: Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A.-L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B., Lombes, A. Tags: Mitochondrial disorders; see Genetics/Mitochondrial disorders, Peripheral neuropathy, Muscle disease, Mitochondrial disorders ARTICLE Source Type: research

Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers
Conclusions: 1H MRSI assessment of cerebral metabolism in A3243G mutation carriers shows promise in identifying disease biomarkers as well as individuals at risk of developing the MELAS phenotype.
Source: Neurology - March 3, 2014 Category: Neurology Authors: Weiduschat, N., Kaufmann, P., Mao, X., Engelstad, K. M., Hinton, V., DiMauro, S., De Vivo, D., Shungu, D. Tags: MRI, MRS, Mitochondrial disorders; see Genetics/Mitochondrial disorders, Mitochondrial disorders ARTICLE Source Type: research

Acute refractory intestinal pseudo-obstruction in MELAS: Efficacy of prucalopride
In mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a multisystem mitochondrial disorder, gastrointestinal involvement is frequent with dysphagia, chronic diarrhea, anorexia, abdominal pain, delayed gastric emptying, and paralytic, often intractable, ileus.1 In this article, we report a patient with chronic gastrointestinal dysmotility and acute refractory intestinal pseudo-obstruction responsive to prucalopride.
Source: Neurology - May 26, 2014 Category: Neurology Authors: Primiano, G., Plantone, D., Forte, F., Sauchelli, D., Scaldaferri, F., Gasbarrini, A., Servidei, S. Tags: CT, Mitochondrial disorders; see Genetics/Mitochondrial disorders, Muscle disease, Class IV, Mitochondrial disorders CLINICAL/SCIENTIFIC NOTES Source Type: research

Phenotypes and Genotypes of Mitochondrial Disease- Findings from A National Mitochondrial Disease Cohort (P2.061)
Conclusion: This national cohort offers a unique opportunity to deep phenotype a large group of mitochondrial disease patients, bridge the gap in our understanding of disease progression, develop clinical guideline on patient care and facilitate patient recruitment for any future trials.Disclosure: Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Nesbitt has nothing to disclose. Dr. Pitceathly has nothing to disclose. Dr. Grady has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Bright has nothing to disclose. Dr. Feeney has nothing to disclose. Dr. Rahman has nothing to disclose. Dr. ...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Ng, Y. S., Gorman, G., Nesbitt, V., Pitceathly, R., Grady, J., Schaefer, A., Bright, A., Feeney, C., Rahman, S., Poulton, J., Taylor, R., Hanna, M., Turnbull, D., McFarland, R. Tags: ALS and Motor Neuron Disease Source Type: research

Teaching NeuroImages: Longitudinally extensive transverse myelitis in MELAS
A 16-year-old girl presented with acute-onset flaccid quadriparesis with urinary incontinence. Medical history unveiled generalized epilepsy since age 7 years and status epilepticus 3 years before. Multisystem compromise was absent. Family history was unremarkable. Two days after admission, generalized refractory status epilepticus occurred. Neuroimaging studies disclosed laminar cortical necrosis and longitudinally extensive transverse myelitis (LETM) in cervical and thoracic spinal cord levels (figure). Muscle biopsy disclosed subsarcolemmal mitochondrial proliferation and ragged-red fibers (figure). Genetic testing conf...
Source: Neurology - January 25, 2016 Category: Neurology Authors: Souza, P. V. S. d., Pinto, W. B. V. d. R., Oliveira, A. S. B. Tags: MRI, Metabolic disease (inherited), Spinal cord tumor, All Epilepsy/Seizures, Mitochondrial disorders RESIDENT AND FELLOW SECTION Source Type: research

Different Clinical Manifestations of MELAS in a Single Family (P5.073)
Conclusions: In 1992, diagnostic criteria for MELAS included symptom onset prior to 40-years of age. Numerous case reports have found patients presenting with MELAS after age 40 with genetic confirmation of the mutation. Today, the criteria have been eased and a diagnosis of MELAS should be considered in the appropriate clinical setting at any age.Disclosure: Dr. Koshy has nothing to disclose. Dr. Kamins has nothing to disclose. Dr. Mishra has nothing to disclose. Dr. Flippen has received personal compensation in an editorial capacity for the Journal of Graduate Medical Education and UpToDate. Dr. Singh has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Koshy, S., Kamins, J., Mishra, S., Flippen, C., Singh, S. Tags: Hereditary Muscle Diseases: Genetics and Phenotype Source Type: research

Susceptibility to MELAS Exacerbations in a POLG1 Mutation Carrier (P5.264)
We describe a case of a 46-year-old woman who presented with expressive aphasia, disorientation, and inappropriate laughter. She notably had a history of bilateral sensorineural hearing loss and two stroke-like episodes in her 30s characterized by left hemiparesis. Over the preceding six months, she experienced rapidly progressive vision loss, headaches, and an episode of non-convulsive status epilepticus. Incidentally, she had undergone renal transplantation nine months earlier for autosomal dominant polycystic kidney disease, and was on immunosuppressive therapy with two calcineurin inhibitors—cyclosporine and tacr...
Source: Neurology - April 3, 2016 Category: Neurology Authors: Nadkarni, D., Restrepo, L. Tags: General Neurology: Genetics Source Type: research