Results 1 to 10 of about 27,503 (244)

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome [PDF]

Frontiers in Pharmacology, 2021
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362.3) gene mutation can cause HIBCH deficiency, leading to Leigh/Leigh-like disease. To date, few case series have investigated the relationship between metabolites and clinical phenotypes or the effects ...
Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang   +7 more
doaj   +2 more sources

Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization [PDF]

Research Involvement and Engagement
Background Leigh syndrome is a rare, progressive neurometabolic disorder caused by pathogenic variants in over 110 mitochondrial or nuclear genes. Its clinical and genetic heterogeneity creates challenges for diagnosis, care, and research.
Sophia Zilber, Melinda Burnworth, Titilola Afolabi, Jonathan R. Brestoff, Michal Minczuk, Alejandro Rodriguez Luis, Qinglan Ling, Alessandro Prigione, Isabella Tolle, Ibrahim Elsharkawi, Ethan Perlstein, Danielle Boyce, Simon Johnson, Kasey Woleben   +13 more
doaj   +2 more sources

Leighs disease: powerhouse failure

MRIMS Journal of Health Sciences, 2018
Leigh disease, also known as juvenile sub acute necrotizing encephalomyelopathy, Leigh syndrome, infantile sub acute necrotizing encephalomyelopathy, and sub acute necrotizing encephalomyelopathy (SNEM), is a rare inherited neurometabolic disorder that ...
Himanshu Dua, Radhika Mantry
doaj   +2 more sources

From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant [PDF]

Children
Leigh syndrome is a rare, progressive mitochondrial disorder of childhood. Early diagnosis is often challenging due to nonspecific clinical manifestations.
Minsoo Jeon, Shin-seung Yang, Sera Lee, Ja Young Choi   +3 more
doaj   +2 more sources

Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the NDUFAF6 gene [PDF]

Frontiers in Neurology
Leigh syndrome (LS) is the most common pediatric mitochondrial disorder, typically presenting in infancy with developmental regression, neurological dysfunction, and characteristic brain MRI lesions.
Qi Yang, Qi Yang, Qiang Zhang, Qiang Zhang, Xunzhao Zhou, Xunzhao Zhou, Zailong Qin, Zailong Qin, Xuanjing Liang, Sheng Yi, Sheng Yi, Shujie Zhang, Shujie Zhang, Weiliang Lu, Weiliang Lu, Shang Yi, Shang Yi, Jingsi Luo, Jingsi Luo, Jingsi Luo   +19 more
doaj   +2 more sources

Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice. [PDF]

Brain, 2022
Corrà S, Cerutti R, Balmaceda V, Viscomi C, Zeviani M.   +4 more
europepmc   +2 more sources

Adult-onset Leigh′s disease: A rare entity

Annals of Indian Academy of Neurology, 2016
Leigh syndrome (LS) is a heterogeneous familial or sporadic neurodegenerative disorder. It is typically seen in infancy or childhood, although rare cases of adult onset have been described.
Shaik Afshan Jabeen, G Sandeep, Kandadai Rukmini Mridula, Angamuttu Kanikannan Meena, Rupam Borgohain, Challa Sundaram   +5 more
doaj   +3 more sources

Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome [PDF]

Annals of Child Neurology, 2022
Purpose Diagnosing Leigh syndrome (LS), a representative mitochondrial disease, remains challenging. Mitochondrial DNA (mtDNA)-associated LS, which is maternally inherited, has relatively well-known genetic variants.
Ji-Hoon Na, Je Hee Shin, Hyunjoo Lee, Young-Mock Lee   +3 more
doaj   +1 more source

Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome

Orphanet Journal of Rare Diseases, 2023
Background Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many hurdles in drug discovery efforts ...
Jesse D. Moreira, Karan K. Smith, Sophia Zilber, Kasey Woleben, Jessica L. Fetterman   +4 more
doaj   +1 more source

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Human Genome Variation, 2022
Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation.
Ryosuke Tanaka, Ryo Takeguchi, Mami Kuroda, Nao Suzuki, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi   +7 more
doaj   +1 more source