title: Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.
abstract: Patients with mutations in the polymerase gamma gene (POLG) may present with progressive ataxia and in such situations neuroimaging findings may suggest the diagnosis. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.
authors.affiliation: Department of Pediatric Neurology, Universidad de Antioquia, Medellín, Colombia.
authors.forename: Adriana I
authors.initials: AI
authors.lastname: Henao
authors.affiliation: Department of Pediatric Neurology, Universidad de Antioquia, Medellín, Colombia.
authors.forename: Sonia
authors.initials: S
authors.lastname: Pira
authors.affiliation: Department of Radiology, Universidad de Antioquia, Medellín, Colombia Department of Radiology, CediMed (Centro Avanzado de Diagnóstico Médico), Medellín, Colombia herrera.diego@gmail.com.
authors.forename: Diego A
authors.initials: DA
authors.lastname: Herrera
authors.affiliation: Department of Radiology, Universidad de Antioquia, Medellín, Colombia Department of Radiology, CediMed (Centro Avanzado de Diagnóstico Médico), Medellín, Colombia.
authors.forename: Sergio A
authors.initials: SA
authors.lastname: Vargas
authors.affiliation: Department of Genetics, Universidad de Antioquia, Medellín, Colombia.
authors.forename: Jorge
authors.initials: J
authors.lastname: Montoya
authors.affiliation: Department of Radiology, University of North Carolina, Chapel Hill, NC, USA.
authors.forename: Mauricio
authors.initials: M
authors.lastname: Castillo
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000473:pathology*; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human
keywords: Ataxia; MRI; POLG