title: Genetic Anticipation in Familial Neuromyelitis Optica: Case and Literature Review.
abstract: OBJECTIVE
  To describe genetic anticipation in a mother and daughter with antiaquaporin 4 (AQP4) antibody-positive neuromyelitisoptica (NMO).
  
  
  METHODS
  Retrospective case review.
  
  
  RESULTS
  A woman with onset of transverse myelitis at age 38 was found to have a positive AQP4 antibody during work-up of recurrent symptoms. Subsequently, she developed intermittent episodes of monocular vision loss with optic nerve involvement that were treated with intravenous methylprednisolone and chronic rituximab. Eighteen years after initial presentation, her 78-year-old mother, with a history of recurrent urinary tract infections, also developed monocular vision loss and her anti-AQP4 antibody was positive. Previous reports of genetic anticipation in familial NMO are identified and discussed.
  
  
  CONCLUSIONS
  These cases highlight genetic anticipation in familial NMO. Disease onset can occur with a chronological age difference of as much as 40 years between parent and child. Patients with NMO should be counseled regarding the possibility of subsequent disease onset in family members, particularly parents, with significant differences in calendar or chronological year of onset.
authors.forename: Shaheen C
authors.initials: SC
authors.lastname: Kavoussi
authors.forename: Robert L
authors.initials: RL
authors.lastname: Lesser
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D058846:Antibodies, Monoclonal, Murine-Derived / Q000627:therapeutic use; D020132:Anticipation, Genetic; D051401:Aquaporin 4 / Q000276:immunology*; D005260:Female; D006801:Humans; D008775:Methylprednisolone / Q000627:therapeutic use; D009188:Myelitis, Transverse / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D009471:Neuromyelitis Optica / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D012189:Retrospective Studies; D000069283:Rituximab
chemical_list: D058846:Antibodies, Monoclonal, Murine-Derived; D051401:Aquaporin 4; D000069283:Rituximab; D008775:Methylprednisolone