Ilka Kleffner1, Caroline Wessling2, Burkhard Gess3, Catharina Korsukewitz2, Thomas Allkemper4, Anja Schirmacher3, Peter Young3, Jan Senderek5, Ingo W Husstedt2. 1. Department of Neurology, University of Muenster, Germany. Electronic address: Ilka.Kleffner@ukmuenster.de. 2. Department of Neurology, University of Muenster, Germany. 3. Department for Sleep Medicine and Neuromuscular Disorders, University of Muenster, Germany. 4. Institute of Clinical Radiology, University of Muenster, Germany. 5. Friedrich-Baur Institute, University of Munich, Germany.
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). CONCLUSION: We expand the spectrum of genetic causes of Behr syndrome. Genetic testing of patients presenting with Behr syndrome should include C19ORF12 mutation screening.
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). CONCLUSION: We expand the spectrum of genetic causes of Behr syndrome. Genetic testing of patients presenting with Behr syndrome should include C19ORF12 mutation screening.
Authors: Ethan Gore; Brian S Appleby; Mark L Cohen; Suzanne D DeBrosse; James B Leverenz; Bruce L Miller; Sandra L Siedlak; Xiongwei Zhu; Alan J Lerner Journal: Neurocase Date: 2016-11-01 Impact factor: 0.881
Authors: Ryan J Bevan; Pete A Williams; Caroline T Waters; Rebecca Thirgood; Amanda Mui; Sharon Seto; Mark Good; James E Morgan; Marcela Votruba; Irina Erchova Journal: Brain Commun Date: 2020-07-15