title: Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA).
abstract: BACKGROUND
  Dentatorubropallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disease that is associated with numerous movement disorders. Ocular problems also occur with DRPLA with reports of corneal endothelial degeneration in some patients living with the disease. We report a new visual problem associated with DRPLA, optic atrophy.
  
  
  METHODS
  A 47 year-old man presented complaining of progressive visual loss associated with optic atrophy on ophthalmological evaluation. He gradually developed a progressive ataxia with dystonia. Brain MRI revealed a diffuse leukoencephalopathy. Genetic analysis revealed 62 CAG repeats in one allele of the DRPLA gene and he was diagnosed with DRPLA.
  
  
  CONCLUSIONS
  Optic atrophy should be included in the clinical spectrum of DRPLA.
authors.affiliation: Department of Neurology, Movement Disorders, School of Medicine, Emory University, Atlanta, GA, 30322, USA. michael.r.silver@emory.edu.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Silver
authors.affiliation: Department of Neurology, Movement Disorders Program, Medical College of Georgia, Georgia Regents University, 1429 Harper Street, HF-1154, Augusta, GA, 30912, USA. ksethi@gru.edu.
authors.forename: Kapil D
authors.initials: KD
authors.lastname: Sethi
authors.affiliation: Department of Neurology, Movement Disorders, Mayo Clinic, Scottsdale, AZ, 85259, USA. mehta.shyamal@mayo.edu.
authors.forename: Shyamal H
authors.initials: SH
authors.lastname: Mehta
authors.affiliation: Neurology Service, Veterans Affairs Medical Center, One Freedom Way, Augusta, GA, 30904, USA. fnichols@gru.edu.|Department of Neurology, Stroke Program, Medical College of Georgia, Georgia Regents University, Augusta, GA, 30912, USA. fnichols@gru.edu.
authors.forename: Fenwick T
authors.initials: FT
authors.lastname: Nichols
authors.affiliation: Department of Neurology, Movement Disorders Program, Medical College of Georgia, Georgia Regents University, 1429 Harper Street, HF-1154, Augusta, GA, 30912, USA. jmorgan@gru.edu.|Neurology Service, Veterans Affairs Medical Center, One Freedom Way, Augusta, GA, 30904, USA. jmorgan@gru.edu.
authors.forename: John C
authors.initials: JC
authors.lastname: Morgan
mesh_terms: D001259:Ataxia / Q000209:etiology; D004421:Dystonia / Q000209:etiology; D006801:Humans; D056784:Leukoencephalopathies / Q000209:etiology; D008297:Male; D008875:Middle Aged; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications* / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009896:Optic Atrophy / Q000209:etiology*; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins; C095278:atrophin-1