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Article Synopsis
- A 38-year-old woman experienced difficulty walking and focal seizures, showing signs of cerebellar dysfunction and spastic lower limbs, while having a long history of epilepsy treatment since the age of 20.
- An MRI and MR spectroscopy indicated significant brain changes, including elevated lactate levels, suggesting a mitochondrial disorder.
- Due to financial constraints preventing genetic testing, she was diagnosed with MELAS and switched to alternative treatments to manage her condition.
Neuronal Intranuclear Inclusion Disease Presenting with Acute-Onset Dementia and Cortical Edema: A Case Report.
Front Neurol
October 2024
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Article Synopsis
- * An elderly male patient with sudden onset dementia was initially misdiagnosed with a vascular issue, but further tests and imaging confirmed NIID, revealing significant cortical edema and prior MRI changes in the cerebellum.
- * The case highlights the importance of considering NIID in patients with specific imaging features and symptoms similar to other conditions like MELAS syndrome or Creutzfeldt-Jakob disease, particularly when chronic headaches and symmetric lesions in the cerebellum are present.
Primary mitochondrial diseases.
Handb Clin Neurol
September 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, United Kingdom. Electronic address:
Article Synopsis
- Primary mitochondrial diseases (PMDs) are genetic disorders affecting the mitochondrial respiratory chain, with a prevalence of 1 in 4,300 individuals.
- Leukoencephalopathy is a key symptom in many PMDs, linked to mutations in either mitochondrial or nuclear DNA, manifesting in various syndromes.
- The chapter discusses clinical features, brain MRI indicators, diagnostic approaches, and management strategies for PMDs, emphasizing the importance of genetic diagnosis for proper care and clinical trial participation.
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic Variants.
Neurol Genet
April 2024
From the University Children's Hospital Salzburg (S.B.W., R.G.F., J.A.M.), Austria; Amalia Children's Hospital (S.B.W., L.A.G., J. Hebbink, M.A.W.), Department of Pediatrics (Pediatric Neurology), Nijmegen, The Netherlands; Division of Child Neurology (L.A., E.B.), University Children's Hospital Zurich, Switzerland; Pediatric Neurology Department (M.A.), Necker-Enfants Malades University Hospital, Paris Cité University, APHP; Reference Centre for Mitochondrial Disorders (CARAMMEL) (C.-M.D.-B., M.S.), Hôpital Necker-Enfants-Malades, APHP, Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; 6Paediatric Radiology Department (N.B.), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163France; Department of Toxicogenomics (R.C.), Research School of Mental Health and Neuroscience, Maastricht University, The Netherlands; Institute of Medical Genetics and Applied Genomics (L.S., T.B.H.), University of Tübingen; Praxis für Humangenetik (W.H.); Carl-Thiem-Klinikum Cottbus (W.H.); Center for Human Genetics Tübingen (J. Hildebrandt, N.H.); CeGaT GmbH (J. Hildebrandt, N.H.), Tübingen; Department Pediatrics (N.H., C.T.), Centre for Child and Adolescent Medicine, University of Heidelberg; Department of Neuropediatrics (C.K.), University Children's Hospital, Klinikum Oldenburg, Germany; University of British Columbia (A.L.), Vancouver, Canada; Royal Belfast Hospital for Sick Children (T.L.), Belfast, Northern Ireland; University Hospital (C. Makowski), LMU Munich, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany; Department of Neurology (R.J.M.M.), Hospital Universitario La Paz, Madrid, Spain; Reference Center for Intellectual Disabilities of Rare causes (P.M., M.R.), Federation de médecine Génomique des maladies Rares, APHP, Hôpital Necker-Enfants Malades, Paris, France; University Medical Centre Göttingen (C. Mühlhausen), Department of Pediatrics and Adolescent Medicine, Göttingen, Germany; Université Paris Cité (A.R.), Imagine Institute, Genetics of Mitochondrial Disorders, INSERM UMR 1163; Paediatric Radiology Department (C.-J.R), AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, Paris France; Division of Pediatric Epileptology (S.S.), Centre for Child and Adolescent Medicine, University of Heidelberg, Germany; Department of Neurology (S.A.Z.), LangeLand Hospital, Zoetermeer, The Netherlands; Metabolic Research Group (M.V.C., E.S.), de Duve Institute and UCLouvain, Brussels, Belgium; Technical University of Munich (M. Wagner), School of Medicine, Institute of Human Genetics, Munich, Germany; and Department of Human Genetics (R.A.W.), Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
Background And Objectives: Hexokinase 1 (encoded by ) catalyzes the first step of glycolysis, the adenosine triphosphate-dependent phosphorylation of glucose to glucose-6-phosphate. Monoallelic variants causing a neurodevelopmental disorder (NDD) have been reported in 12 individuals.
Methods: We investigated clinical phenotypes, brain MRIs, and the CSF of 15 previously unpublished individuals with monoallelic variants and an NDD phenotype.
Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene.
Epilepsy Behav Rep
February 2024
Division of Child Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Behr syndrome is associated with compound heterozygous dysfunction in gene and typically presents with a constellation of visual impairment due to early onset optic atrophy, cerebellar ataxia, peripheral neuropathy, deafness, and gastrointestinal motility problems. Our patient with biallelic variants in gene had delayed motor milestones, cerebellar ataxia, and optic atrophy in infancy. At the age of 7 years, he presented with recurrent episodes of super-refractory status epilepticus and metabolic stroke due to underlying mitochondrial dysfunction associated with gene dysfunction.
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