title: [Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity].
abstract: 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.
authors.affiliation: Helsingin yliopisto, Biomedicum, molekyylineurologian tutkimusohjelma.
authors.forename: Anna H
authors.initials: AH
authors.lastname: Hakonen
authors.forename: Pirjo
authors.initials: P
authors.lastname: Isohanni
authors.forename: Maria
authors.initials: M
authors.lastname: Rantamäki
authors.forename: Reetta
authors.initials: R
authors.lastname: Kälviäinen
authors.forename: Arno
authors.initials: A
authors.lastname: Nordin
authors.forename: Johanna
authors.initials: J
authors.lastname: Uusimaa
authors.forename: Anders
authors.initials: A
authors.lastname: Paetau
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
authors.forename: Helena
authors.initials: H
authors.lastname: Pihko
authors.forename: Anu
authors.initials: A
authors.lastname: Wartiovaara
mesh_terms: 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
chemical_list: D000927:Anticonvulsants; D004272:DNA, Mitochondrial; D014635:Valproic Acid