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When the Expected Scenario Did Not Occur: A Novel Mutation Resembling Neuromyelitis Optica Spectrum Disorder.
J Child Neurol
January 2025
Department of Pediatrics, Division of Child Neurology, Ankara Etlik City Hospital, Ankara, Turkey.
Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. , located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the mutations are associated with Leigh syndrome and complex I defects.
View Article and Find Full Text PDFClinical features and factors associated with outcomes of antibody-negative autoimmune encephalitis in patients requiring intensive care.
Crit Care
January 2025
Department of Neuro-Intensive Care Unit, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Background And Objectives: Antibody-negative autoimmune encephalitis (AE) is a form of encephalitis characterized by the absence of detectable autoimmune antibodies, despite immunological evidence. However, data on management of patients with antibody-negative AE in the intensive care unit (ICU) are limited. This study aimed to explore the characteristics and subtypes of antibody-negative AE, assess the effects of immunotherapy, and identify factors independently associated with poor functional outcomes in patients requiring intensive care.
View Article and Find Full Text PDFVPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.
Neurocase
January 2025
Department of Ophthalmology, Affiliated Hospital of Guizhou Medical University, Guiyang, P.R. China.
Background: -related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. -related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of genotype and phenotype of VSD has not been established.
View Article and Find Full Text PDFNeuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.
Neurogenetics
January 2025
Department of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia.
View Article and Find Full Text PDFPathogenic Variant in the 5'-Untranslated Region of and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
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