title: POLG1 variations presenting as multiple sclerosis.
abstract: OBJECTIVE
  To describe 2 unrelated patients with novel variations in the POLG1 gene and features undistinguishable from multiple sclerosis, ie, optic neuritis, brain white matter hyperintense areas, and unmatched cerebrospinal fluid oligoclonal bands.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University hospital. Patients  Both patients subsequently developed bilateral ophthalmoplegia, ptosis, myopathy, cardiomyopathy, ataxia, dysphagia, and hearing and cognitive impairment.
  
  
  METHODS
  Detailed clinical and laboratory examinations including brain magnetic resonance imaging, morphological analysis of a muscle biopsy, characterization of mitochondrial DNA integrity, sequencing of the POLG1 gene, and screening of control subjects for POLG1 sequence variants.
  
  
  RESULTS
  Ragged red fibers and multiple deletions of mitochondrial DNA were detected in the skeletal muscle. Four compound heterozygous variations, including 3 previously unreported, were identified in POLG1.
  
  
  CONCLUSIONS
  Clinicians should be aware of the existence of POLG1-related multiple sclerosis-like illness, as it has important implications for management, treatment, and genetic counseling.
authors.affiliation: Département de Neurologie, Hôpital Civil, 67091 Strasbourg, France. andoni.echaniz-laguna@chru-strasbourg.fr
authors.forename: Andoni
authors.initials: A
authors.lastname: Echaniz-Laguna
authors.forename: Maïté
authors.initials: M
authors.lastname: Chassagne
authors.forename: Jérôme
authors.initials: J
authors.lastname: de Sèze
authors.forename: Michel
authors.initials: M
authors.lastname: Mohr
authors.forename: Pascale
authors.initials: P
authors.lastname: Clerc-Renaud
authors.forename: Christine
authors.initials: C
authors.lastname: Tranchant
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Mousson de Camaret
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human