Mitochondrial diseases and epilepsy

被引：94

作者：

Bindoff, Laurence A. ^{[1
]}

Engelsen, Bernt A.

机构：

[1] Haukeland Hosp, Dept Neurol, N-5021 Bergen, Norway

来源：

EPILEPSIA | 2012年 / 53卷

关键词：

Mitochondrial respiratory chain; Mitochondrial myopathy encephalopathy; Lactic acidosis and stroke; Myoclonus epilepsy and ragged-red fibers; Polymerase gamma; DNA-POLYMERASE-GAMMA; STROKE-LIKE EPISODES; MYOCLONUS EPILEPSY; STATUS EPILEPTICUS; LACTIC-ACIDOSIS; ENERGY FAILURE; MUTATIONS; MELAS; ENCEPHALOPATHY; DISORDERS;

D O I：

10.1111/j.1528-1167.2012.03618.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

The mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus. This review summarizes our current understanding of the epilepsy that occurs in mitochondrial disease, focusing on three of the most common disorders: mitochondrial myopathy encephalopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy and ragged-red fibers (MERRF), and polymerase gamma (POLG) related disease. In addition, we review the pathogenesis and possible treatment of these disorders.

引用

页码：92 / 97

页数：6

共 44 条

[1]

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009 [J].

Berg, Anne T. ;

Berkovic, Samuel F. ;

Brodie, Martin J. ;

Buchhalter, Jeffrey ;

Cross, J. Helen ;

Boas, Walter van Emde ;

Engel, Jerome ;

French, Jacqueline ;

Glauser, Tracy A. ;

Mathern, Gary W. ;

Moshe, Solomon L. ;

Nordli, Douglas ;

Plouin, Perrine ;

Scheffer, Ingrid E. .

EPILEPSIA, 2010, 51 (04) :676-685

[2]

MYOCLONUS EPILEPSY AND RAGGED-RED FIBERS (MERRF) .1. A CLINICAL, PATHOLOGICAL, BIOCHEMICAL, MAGNETIC-RESONANCE SPECTROGRAPHIC AND POSITRON EMISSION TOMOGRAPHIC STUDY [J].

BERKOVIC, SF ;

CARPENTER, S ;

EVANS, A ;

KARPATI, G ;

SHOUBRIDGE, EA ;

ANDERMANN, F ;

MEYER, E ;

TYLER, JL ;

DIKSIC, M ;

ARNOLD, D ;

WOLFE, LS ;

ANDERMANN, E ;

HAKIM, AM .

BRAIN, 1989, 112 :1231-1260

[3]

Epileptic phenotypes associated with mitochondrial disorders [J].

Canafoglia, L ;

Franceschetti, S ;

Antozzi, C ;

Carrara, F ;

Farina, L ;

Granata, T ;

Lamantea, E ;

Savoiardo, M ;

Uziel, G ;

Villani, F ;

Zeviani, M ;

Avanzini, G .

NEUROLOGY, 2001, 56 (10) :1340-1346

[4]

Defects in mitochondrial DNA replication and human disease [J].

Copeland, William C. .

CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2012, 47 (01) :64-74

[5]

Mitochondrial disorders in the nervous system [J].

DiMauro, Salvatore ;

Schon, Eric A. .

ANNUAL REVIEW OF NEUROSCIENCE, 2008, 31 :91-123

[6]

Epileptic phenotypes in children with respiratory chain disorders [J].

El Sabbagh, Sandra ;

Lebre, Anne-Sophie ;

Bahi-Buisson, Nadia ;

Delonlay, Pascale ;

Soufflet, Christine ;

Boddaert, Nathalie ;

Rio, Marlene ;

Roetig, Agnes ;

Dulac, Olivier ;

Munnich, Arnold ;

Desguerre, Isabelle .

EPILEPSIA, 2010, 51 (07) :1225-1235

[7]

Pathogenic mitochondrial DNA mutations are common in the general population [J].

Elliott, Hannah R. ;

Samuels, David C. ;

Eden, James A. ;

Relton, Caroline L. ;

Chinnery, Patrick F. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (02) :254-260

[8]

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection [J].

Engelsen, Bernt A. ;

Tzoulis, Charalampos ;

Karlsen, Bjorn ;

Lillebo, Atle ;

Laegreid, Liv M. ;

Aasly, Jan ;

Zeviani, Massimo ;

Bindoff, Laurence A. .

BRAIN, 2008, 131 :818-828

[9]

Acute, Reversible Axonal Energy Failure During Stroke-Like Episodes in MELAS [J].

Farrar, Michelle A. ;

Lin, Cindy S. -Y. ;

Krishnan, Arun V. ;

Park, Susanna B. ;

Andrews, Peter Ian ;

Kiernan, Matthew C. .

PEDIATRICS, 2010, 126 (03) :E734-E739

[10]

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA [J].

Ferrari, G ;

Lamantea, E ;

Donati, A ;

Filosto, M ;

Briem, E ;

Carrara, F ;

Parini, R ;

Simonati, A ;

Santer, R ;

Zeviani, M .

BRAIN, 2005, 128 :723-731

← 1 2 3 4 5 →