TY - JOUR
T1 - Status epilepticus in POLG disease
T2 - a large multinational study
AU - Hikmat, Omar
AU - Naess, Karin
AU - Engvall, Martin
AU - Klingenberg, Claus
AU - Rasmussen, Magnhild
AU - Brodtkorb, Eylert
AU - Ostergaard, Elsebet
AU - de Coo, Irenaeus
AU - Pias-Peleteiro, Leticia
AU - Isohanni, Pirjo
AU - Uusimaa, Johanna
AU - Majamaa, Kari
AU - Kärppä, Mikko
AU - Ortigoza-Escobar, Juan Dario
AU - Tangeraas, Trine
AU - Berland, Siren
AU - Harrison, Emma
AU - Biggs, Heather
AU - Horvath, Rita
AU - Darin, Niklas
AU - Rahman, Shamima
AU - Bindoff, Laurence A.
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
KW - Epilepsy
KW - Mitochondrial disease
KW - POLG
KW - Refractory status epilepticus
U2 - 10.1007/s00415-024-12463-5
DO - 10.1007/s00415-024-12463-5
M3 - Journal article
C2 - 38822839
AN - SCOPUS:85195126856
VL - 271
SP - 5156
EP - 5164
JO - Deutsche Zeitschrift fur Nervenheilkunde
JF - Deutsche Zeitschrift fur Nervenheilkunde
SN - 0939-1517
IS - 8
ER -