title: Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.
abstract: Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder, characterized by a wide clinical and genetic heterogeneity, and is the most frequent disorder of mitochondrial energy production in children. Beside its great variability in clinical, biochemical, and genetic features, LS is pathologically uniformly characterized by multifocal bilateral and symmetric spongiform degeneration of the basal ganglia, brainstem, thalamus, cerebellum, spinal cord, and optic nerves. Isolated complex I deficiency is the most common defect identified in Leigh syndrome. In 2011, the first child with a mutation of NDUFA10 gene, coding for an accessory subunits of complex I, was described. Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition.
authors.affiliation: Second Division of Pediatrics, Istituto Giannina Gaslini, Genoa, Italy. francescaminoia@gaslini.org.
authors.forename: Francesca
authors.initials: F
authors.lastname: Minoia
authors.affiliation: Rare Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Bertamino
authors.affiliation: Second Division of Pediatrics, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Picco
authors.affiliation: Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Mariasavina
authors.initials: M
authors.lastname: Severino
authors.affiliation: Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.affiliation: Neuromuscular Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Fiorillo
authors.affiliation: Neuromuscular Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.affiliation: Molecular Medicine and Neuromuscular Disorders, IRCCS Stella Maris, Calambrone, Pisa, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Nesti
authors.affiliation: Molecular Medicine and Neuromuscular Disorders, IRCCS Stella Maris, Calambrone, Pisa, Italy.
authors.forename: Filippo Maria
authors.initials: FM
authors.lastname: Santorelli
authors.affiliation: Rare Diseases Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
keywords: Complex I deficiency; Leigh syndrome; Mitochondrial disorders; NDUFA10 gene; Neuroradiologic features