Status epilepticus in POLG disease: a large multinational study
Por:
Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Brodtkorb, E, Ostergaard, E, de Coo, I, Pias-Peleteiro LD, Isohanni, P, Uusimaa, J, Majamaa, K, Kaerppae, M, Ortigoza-Escobar JD, Tangeraas, T, Berland, S, Harrison, E, Biggs, H, Horvath, R, Darin, N, Rahman, S and Bindoff, LA
Publicada:
1 jul 2024
Ahead of Print:
1 jun 2024
Resumen:
We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threatening condition. In a multinational, retrospective study with data on patients with POLG disease from seven European countries, we identified those who had SE. The age of SE onset, accompanying clinical, laboratory, imaging and genetic findings were analysed. One hundred and ninety-five patients with genetically confirmed POLG disease were recruited, of whom 67% (130/194) had epilepsy. SE was identified in 77% (97/126), with a median age of SE onset of 7 years. SE was the presenting symptom of the disease in 43% (40/93) of those with SE, while 57% (53/93) developed SE during the disease course. Convulsive SE was reported in 97% (91/94) followed by epilepsia partialis continua in 67% (56/84). Liver impairment 78% (74/95), ataxia 69% (60/87), stroke-like episodes 57% (50/88), were the major comorbidities. In the majority (66%; 57/86) with SE this became refractory or super-refractory. The presence of seizures was associated with significantly higher mortality compared to those without (P <= 0.001). The median time from SE debut to death was 5 months. SE is a major clinical feature of POLG disease in early and juvenile to adult-onset disease and can be the presenting feature or arise as part of a multisystem disease. It is associated with high morbidity and mortality, with the majority of patients with SE going on to develop refractory or super-refractory SE.
Filiaciones:
Hikmat, O:
Haukeland Hosp, Dept Paediat & Adolescent Med, Bergen, Norway
Univ Bergen, Dept Clin Med K1, Bergen, Norway
European Reference Network Hereditary Metab Disord, Oslo, Norway
Naess, K:
Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden
Karolinska Univ Hosp, Astrid Lindgren Childrens Hosp, Dept Neuropediat, Stockholm, Sweden
Engvall, M:
Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden
Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
Klingenberg, C:
Univ Hosp North Norway, Dept Paediat & Adolescent Med, Tromso, Norway
Arctic Univ Norway, Dept Clin Med, Paediat Res Grp, UiT, Tromso, Norway
Rasmussen, M:
Oslo Univ Hosp, Div Paediat & Adolescent Med, Dept Clin Neurosci Children, Oslo, Norway
Oslo Univ Hosp, Dept Neurol, Unit Congenital & Hereditary Neuromuscular Disorde, Oslo, Norway
Brodtkorb, E:
Norwegian Univ Sci & Technol, Dept Neuromed & Movement Sci, Trondheim, Norway
St Olavs Univ Hosp, Dept Neurol & Clin Neurophysiol, Trondheim, Norway
Ostergaard, E:
Copenhagen Univ Hosp Rigshospitalet, Dept Clin Genet, Copenhagen, Denmark
Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark
de Coo, I:
Univ Maastricht, Fac Hlth Med & Life Sci, Dept Toxicol, Maastricht, Netherlands
Pias-Peleteiro LD:
St Joan De Deu Childrens Hosp, Dept Child Neurol, Dept Genet & Mol Med, Neurometab Disorders Unit, Barcelona, Spain
Isohanni, P:
Univ Helsinki, Childrens Hosp, Dept Pediat Neurol, Helsinki, Finland
Univ Helsinki, Pediat Res Ctr, Helsinki, Finland
Helsinki Univ Hosp, Helsinki, Finland
Univ Helsinki, Fac Med, Stem Cells & Metab Res Program, Helsinki, Finland
European Reference Network Hereditary Metab Disord, Helsinki, Finland
Uusimaa, J:
Univ Oulu, Res Unit Clin Med, Oulu, Finland
Oulu Univ Hosp, Dept Pediat Neurol, Clin Children & Adolescents, PEDEGO Res Unit,Dept Children & Adolescents, Oulu, Finland
Oulu Univ Hosp, Med Res Ctr, Oulu, Finland
Majamaa, K:
Oulu Univ Hosp, Neurol & Med Res Ctr Oulu, Res Unit Clin Med, Oulu, Finland
Univ Oulu, Oulu, Finland
Oulu Univ Hosp, Neuroctr, Oulu, Finland
Kaerppae, M:
Oulu Univ Hosp, Neurol & Med Res Ctr Oulu, Res Unit Clin Med, Oulu, Finland
Univ Oulu, Oulu, Finland
Oulu Univ Hosp, Neuroctr, Oulu, Finland
Ortigoza-Escobar JD:
Inst Recerca St Joan De Deu, Movement Disorders Unit, CIBERER ISCIII, Barcelona, Spain
European Reference Network Rare Neurol Dis ERN RND, Barcelona, Spain
Tangeraas, T:
European Reference Network Hereditary Metab Disord, Oslo, Norway
Oslo Univ Hosp, Div Pediat & Adolescent Med, Norwegian Natl Unit Newborn Screening, Oslo, Norway
Berland, S:
Haukeland Hosp, Dept Med Genet, Bergen, Norway
Harrison, E:
Univ Cambridge, Dept Clin Neurosci, Cambridge, England
Biggs, H:
Univ Cambridge, Dept Clin Neurosci, Cambridge, England
Horvath, R:
Univ Cambridge, Dept Clin Neurosci, Cambridge, England
Darin, N:
Univ Gothenburg, Sahlgrenska Univ Hosp, Queen Silv Childrens Hosp, Inst Clin Sci,Dept Pediat, Gothenburg, Sweden
Rahman, S:
UCL Great Ormond St Inst Child Hlth, Mitochondrial Res Grp, London, England
Great Ormond St Hosp Children NHS Fdn Trust, Metab Unit, London, England
European Reference Network Hereditary Metab Disord, London, England
Bindoff, LA:
Univ Bergen, Dept Clin Med K1, Bergen, Norway
European Reference Network Hereditary Metab Disord, Oslo, Norway
Haukeland Hosp, Dept Neurol, N-5021 Bergen, Norway
Green Published, Green Submitted, hybrid
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