title: Behr syndrome with homozygous C19ORF12 mutation.
abstract: OBJECTIVE
  Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, ataxia, pyramidal signs and mental retardation. Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder.
  
  
  METHODS
  We present the long-term observation of two Turkish sisters with Behr syndrome. We performed neurophysiological, imaging and molecular genetic studies to identify the underlying genetic cause in our patients.
  
  
  RESULTS
  Magnetic resonance imaging of the brain showed bilateral hypointense signals in the basal ganglia which prompted us to consider neurodegeneration with brain iron accumulation (NBIA) as a differential diagnosis. Molecular genetic studies revealed a homozygous mutation in the C19ORF12 gene which has been previously reported in patients with a subtype of NBIA, mitochondrial membrane protein-associated neurodegeneration (MPAN).
  
  
  CONCLUSIONS
  We expand the spectrum of genetic causes of Behr syndrome. Genetic testing of patients presenting with Behr syndrome should include C19ORF12 mutation screening.
authors.affiliation: Department of Neurology, University of Muenster, Germany. Electronic address: Ilka.Kleffner@ukmuenster.de.
authors.forename: Ilka
authors.initials: I
authors.lastname: Kleffner
authors.affiliation: Department of Neurology, University of Muenster, Germany.
authors.forename: Caroline
authors.initials: C
authors.lastname: Wessling
authors.affiliation: Department for Sleep Medicine and Neuromuscular Disorders, University of Muenster, Germany.
authors.forename: Burkhard
authors.initials: B
authors.lastname: Gess
authors.affiliation: Department of Neurology, University of Muenster, Germany.
authors.forename: Catharina
authors.initials: C
authors.lastname: Korsukewitz
authors.affiliation: Institute of Clinical Radiology, University of Muenster, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Allkemper
authors.affiliation: Department for Sleep Medicine and Neuromuscular Disorders, University of Muenster, Germany.
authors.forename: Anja
authors.initials: A
authors.lastname: Schirmacher
authors.affiliation: Department for Sleep Medicine and Neuromuscular Disorders, University of Muenster, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Young
authors.affiliation: Friedrich-Baur Institute, University of Munich, Germany.
authors.forename: Jan
authors.initials: J
authors.lastname: Senderek
authors.affiliation: Department of Neurology, University of Muenster, Germany.
authors.forename: Ingo W
authors.initials: IW
authors.lastname: Husstedt
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000473:pathology; D001479:Basal Ganglia / Q000473:pathology; D005260:Female; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D059906:Neuroimaging; D009896:Optic Atrophy / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D013035:Spasm / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: C568481:C19orf12 protein, human; D024101:Mitochondrial Proteins
keywords: Ataxia and gait disorders; Inherited disorders, Behr syndrome, optic atrophy, cognitive decline; Neurodegeneration with brain iron accumulation (NBIA); Neuroophthalmology