title: Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
abstract: Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/dysphagia and external ophthalmoplegia (SANDO) are reported. Both patients showed compound heterozygosity for POLG1 gene mutations, and presented with symptom of the clinical characteristics of SANDO. A patient with a p.A467T and p.W748S, well-known mutations showed a progressive course with early onset and multisystem involvement, including symptoms characteristics for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The second patient showed a less well-known p.T251I and p.G848S mutations with late onset and dysphagia/dysarthria dominated, moderate symptoms. This later is the second published case history, when these POLG1 gene mutations are the possible background of late onset SANDO, dominantly presenting with bulbar symptoms.
authors.affiliation: Division of Neurosciences, Linköping University, Linköping, Sweden. istvan.gati@lio.se
authors.forename: István
authors.initials: I
authors.lastname: Gáti
authors.forename: Olof
authors.initials: O
authors.lastname: Danielsson
authors.forename: Jon
authors.initials: J
authors.lastname: Jonasson
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Landtblom
mesh_terms: D000368:Aged; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D004401:Dysarthria / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009886:Ophthalmoplegia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human