Results 1 to 10 of about 1,539,228 (134)

Arrhythmia as a cardiac manifestation in MELAS syndrome

Molecular Genetics and Metabolism Reports, 2015
A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial
Tamara Thomas, William J. Craigen, Ryan Moore, Richard Czosek, John L. Jefferies   +4 more
doaj   +2 more sources

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome [PDF]

BMC Neurology, 2013
Background POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-
Cheldi Antonella, Ronchi Dario, Bordoni Andreina, Bordo Bianca, Lanfranconi Silvia, Bellotti Maria Grazia, Corti Stefania, Lucchini Valeria, Sciacco Monica, Moggio Maurizio, Baron Pierluigi, Comi Giacomo Pietro, Colombo Antonio, Bersano Anna   +13 more
doaj   +3 more sources

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS): diagnostic criteria, features of epileptic seizures, and treatment approaches by the example of a clinical case

Неврология, нейропсихиатрия, психосоматика, 2017
The paper describes a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS). The features of  the course and therapy of epilepsy in MELAS are discussed.
M. A. Yamin, I. V. Chernikova, L. V. Araslanova, P. A. Shevkun   +3 more
doaj   +2 more sources

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

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population

Metabolites, 2022
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited genetic mitochondrial disease with a typical onset in the first two decades of life and a major involvement of central nervous system ...
Simona Zanotti, Daniele Velardo, Monica Sciacco   +2 more
doaj   +1 more source

Neurological and non-neurological complications in adult-onset “Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes” syndrome: a diagnostic challenge for internal medicine. A narrative review

Iberoamerican Journal of Medicine
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS) syndrome is a rare genetic mitochondrial disease. Children are the most affected, but this syndrome can manifest at any age.
Mario Díaz Sepúlveda, Felipe Núñez Andia, Gustavo Moreira Guilquiruca, Felipe Ahumada Meneses , Emilia Durán Roco, Cristian Melian Araneda   +5 more
doaj   +1 more source

Perampanel: A therapeutic alternative in refractory status epilepticus associated with MELAS syndrome

Epilepsy and Behavior Case Reports, 2019
To our knowledge, there are no reports of status epilepticus (SE) associated with mitochondrial diseases and treated with perampanel (PER). We present three cases of patients with refractory SE associated with MELAS syndrome who responded favorably to ...
Estevo Santamarina, Alicia Alpuente, Olga Maisterra, María Sueiras, Silvana Sarria, Lorena Guzman, Laura Abraira, Javier Salas-Puig, Manuel Toledo   +8 more
doaj   +1 more source

Impact of Mitochondrial A3243G Heteroplasmy on Mitochondrial Bioenergetics and Dynamics of Directly Reprogrammed MELAS Neurons

Cells, 2022
The MELAS syndrome primarily affecting the CNS is mainly caused by the m.A3243G mutation. The heteroplasmy in different tissues affects the phenotypic spectrum, yet the impact of various levels of m.A3243G heteroplasmy on CNS remains elusive due to the ...
Dar-Shong Lin, Yu-Wen Huang, Che-Sheng Ho, Tung-Sun Huang, Tsung-Han Lee, Tsu-Yen Wu, Zon-Darr Huang, Tuan-Jen Wang   +7 more
doaj   +1 more source

Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases

Orphanet Journal of Rare Diseases
Background Endocrine dysfunctions are commonly associated with mitochondrial diseases. This study aimed to investigate clinical characteristics and outcomes of endocrine manifestations in patients with mitochondrial diseases.
Ja Hye Kim, Dohyung Kim, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi   +6 more
doaj   +1 more source

Exploring mTOR inhibition as treatment for mitochondrial disease

Annals of Clinical and Translational Neurology, 2019
Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment.
Abigail Sage‐Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James H. Garvin Jr, Darryl C. De Vivo   +6 more
doaj   +1 more source