title: Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessiveSDHBmutation with reduced penetrance.
abstract: Mitochondrial disease involving complex II is rare among respiratory chain deficiencies and its genetic cause remains often unknown. Two main clinical presentations are associated with this biochemical defect: mitochondrial encephalomyopathy and susceptibility to tumors. Only one homozygousSDHBmutation has been described in a patient with mitochondrial disorder. We report here two sisters, who presented highly different phenotypes (neurological impairment with leukoencephalopathy vs. asymptomatic status) and harbored the same homozygousSDHBmutation, suggesting reduced penetrance.
authors.affiliation: Unit of Child Neurology, Fondazione Istituto Neurologico 'Carlo Besta', IRCCS, Milan, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Ardissone
authors.affiliation: Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico 'Carlo Besta', IRCCS, Milan, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Invernizzi
authors.affiliation: Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico 'Carlo Besta', IRCCS, Milan, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Nasca
authors.affiliation: Unit of Child Neurology, Fondazione Istituto Neurologico 'Carlo Besta', IRCCS, Milan, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.affiliation: Unit of Neuroradiology, Fondazione Istituto Neurologico 'Carlo Besta', IRCCS, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Farina
authors.affiliation: Unit of Child Neurology, Fondazione Istituto Neurologico 'Carlo Besta', IRCCS, Milan, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Ghezzi
keywords: CSF, cerebrospinal fluid; Leukoencephalopathy; MRC, mitochondrial respiratory chain; MRI, magnetic resonance imaging; Mitochondrial complex II; Mitochondrial disorder; PGL, paragangliomas; SDH, succinate dehydrogenase; SDHB; cII, mitochondrial complex II