Consensus-based statements for the management of mitochondrial stroke-like episodes

Wellcome Open Research

article

Yi Shiau Ng¹  Laurence A. Bindoff⁴  Gráinne S. Gorman¹  Rita Horvath¹  Thomas Klopstock⁷  Michelangelo Mancuso^1,10  Mika H. Martikainen^1,11  Robert Mcfarland¹  Victoria Nesbitt^1,13  Robert D. S. Pitceathly^1,15  Andrew M. Schaefer¹  Doug M. Turnbull¹ 

[1] Wellcome Centre for Mitochondrial Research, Newcastle University;Directorate of Neurosciences, Newcastle Upon Tyne Hospitals NHS Trust;NHS Highly Specialised Service for Rare Mitohcondrial Disorders, Royal Victoria Infirmary;Department of Clinical Medicine, University of Bergen;Department of Neurology, Haukeland University Hospital;Department of Clinical Neurosciences, University of Cambridge;Department of Neurology, Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-Universität München;German Center for Neurodegenerative Diseases;Munich Cluster for Systems Neurology;Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa;Division of Clinical Neurosciences, University of Turku and Turku University Hospital;Great North Children Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust;Department of Paediatrics, The Children's Hospital;NHS Highly Specialised Service for Rare Mitochondrial Disorders,, Nuffield Dept Women’s & Reproductive Health, The Churchill Hospital;MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery;NHS Highly Specialised Service for Rare Mitochondrial Disorders, Centre for Neuromuscular Diseases, The National Hospital of Neurology and Neurosurgery

关键词: MELAS;    m.3243A>G;    POLG;    epilepsy;    status epilepticus;    encephalopathies;    stroke;    neurodegenerative disorders (other than dementia);    antiepileptic drugs;   

DOI  :  10.12688/wellcomeopenres.15599.1

学科分类：内科医学

来源: Wellcome

【 摘 要 】

Background: Focal-onset seizures and encephalopathy are prominent features of a stroke-like episode, which is a severe neurological manifestation associated with subtypes of mitochondrial disease. Despite more than 30 years of research, the acute treatment of stroke-like episodes remains controversial.Methods: We used the modified Delphi process to harness the clinical expertise of a group of mitochondrial disease specialists from five European countries to produce consensus guidance for the acute management of stroke-like episodes and commonly associated complications.Results: Consensus on a new definition of mitochondrial stroke-like episodes was achieved and enabled the group to develop diagnostic criteria based on clinical features, neuroimaging and/or electroencephalogram findings. Guidelines for the management of strokelike episodes were agreed with aggressive seizure management strongly recommended at the outset of stroke-like episodes.Conclusions: Our consensus statement defines stroke-like episodes in terms of an epileptic encephalopathy and we have used this to revise both diagnostic criteria and guidelines for management. A prospective, multi-centre, randomised controlled trial is required for evaluating the efficacy of any compound on modifying the trajectory of stroke-like episodes.

【 授权许可】

CC BY