[Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity].
The clinical phenotypes vary considerably and can be divided into three groups: 1) childhood-onset encephalopathy and hepatopathy, 2) juvenile onset refractory epilepsy and migraine-like headaches, and 3) adult-onset ataxia and neuropathy with additional symptoms such as psychiatric symptoms and cognitive impairment. The life-threatening MIRAS epilepsy should be actively treated, as it is associated with poor prognosis. The form of MIRAS, starting as acute, treatment resistant epilepsy, is important to diagnose, since valproate therapy almost always leads to acute liver failure requiring liver transplantation.
Hakonen
Anna H
AH
Helsingin yliopisto, Biomedicum, molekyylineurologian tutkimusohjelma.
Isohanni
Pirjo
P
Rantamäki
Maria
M
Kälviäinen
Reetta
R
Nordin
Arno
A
Uusimaa
Johanna
J
Paetau
Anders
A
Udd
Bjarne
B
Pihko
Helena
H
Wartiovaara
Anu
A
D000927:Anticonvulsants / Q000009:adverse effects; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D017093:Liver Failure / Q000139:chemically induced; D009154:Mutation; D013577:Syndrome; D014635:Valproic Acid / Q000009:adverse effects
D000927:Anticonvulsants; D004272:DNA, Mitochondrial; D014635:Valproic Acid