title: Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed.
authors.affiliation: Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy. Electronic address: andrea.mignarri@teletu.it.
authors.forename: Andrea
authors.initials: A
authors.lastname: Mignarri
authors.affiliation: Unit of Neurology, Ospedale di Città di Castello, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Cenciarelli
authors.affiliation: Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Da Pozzo
authors.affiliation: Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Cardaioli
authors.affiliation: Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.affiliation: Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.affiliation: Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
mesh_terms: D000328:Adult; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human
keywords: Autosomal recessive cerebellar ataxia; Brugada syndrome; MIRAS; Mithocondrial disease; POLG1; Sensory axonal neuropathy