Results 41 to 50 of about 5,374 (184)

MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies

Frontiers in Neurology, 2021
Introduction: Mitochondrial diseases are characterized by considerable clinical and genetic heterogeneity. Mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS) and Leigh syndrome (LS) are both established mitochondrial ...
Yanping Wei, Yan Huang, Yingmai Yang, Min Qian   +3 more
doaj   +1 more source

Acute onset of diabetes and rapid cognitive decline in a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome

Endocrine Connections, 2023
Mitochondrial diseases are a group of rare diseases presenting with heterogeneous clinical, biochemical, and genetic disorders caused by mutations in the mitochondrial or nuclear genome.
Nam Quang Tran, Chien Cong Phan, Tran Bao Vuong, Thang Viet Tran, Phat Tung Ma   +4 more
doaj   +1 more source

MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes

Frontiers in Neurology, 2022
Mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is an important cause of stroke-mimicking diseases that predominantly affect patients before 40 years of age. MELAS results from gene mutations in either mitochondrial
Weiqin Cheng, Yuting Zhang, Ling He
doaj   +1 more source

Posterior Spinal Instrumented Fusion for Idiopathic Scoliosis in Patients with Multisystemic Neurodegenerative Disorder: A Report of Two Cases

Journal of Orthopaedic Surgery, 2016
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive multisystemic neurodegenerative disorder. MELAS syndrome impairs oxidative phosphorylation and predisposes patients to lactic acidosis, particularly ...
Kwong Weng Loh, Chris Yin Wei Chan, Chee Kidd Chiu, Mohd Shahnaz Bin Hasan, Mun Keong Kwan   +4 more
doaj   +1 more source

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic. [PDF]

, 2016
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome(1) is one of the most frequently inherited mitochondrial disorders.
Schaller, André, Hench, Juergen, Frank, S., Lieb, J., Pröbstel, Anne-Katrin, Frank, Stephan, Fuhr, Peter, Kappos, Ludwig, Hench, J., Sinnreich, Michael, Kappos, L., Lieb, Johanna, Schaller, A., Fuhr, P., Probstel, A. K., Sinnreich, M.   +15 more
core   +1 more source

Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms? [PDF]

Int J Mol Sci
MELAS syndrome, characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, represents a devastating mitochondrial disease, with the stroke-like episodes being its primary manifestation. Arginine supplementation has
Barros CDS, Coutinho A, Tengan CH.
europepmc   +2 more sources

Atypical Strokes in a Young African American Male: A Case of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome

Stroke Research and Treatment, 2011
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare but important cause of stroke-like symptoms which can often be missed Thambisetty and Newman 2004.
Jully M. Sanchez, Judy Ann Tan, Dimitrios Farmakiotis, Vikas Aggarwal   +3 more
doaj   +1 more source

The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

Molecular Genetics and Metabolism Reports, 2016
m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the
E. Keilland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad   +5 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

A Follow-up Study in a Taiwanese Family with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes Syndrome

Journal of the Formosan Medical Association, 2007
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) syndrome is often associated with A3243G point mutation of mitochondrial DNA (mtDNA). We previously described a MELAS family characterized by harboring an additional
Jie-Yuan Li, Rong-Hong Hsieh, Nan-Jing Peng, Ping-Hong Lai, Cheng-Feng Lee, Yuk-Keung Lo, Yau-Huei Wei   +6 more
doaj   +1 more source