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).

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: Ilka Kleffner, Caroline Wessling, Burkhard Gess, Catharina Korsukewitz, Thomas Allkemper, Anja Schirmacher, Peter Young, Jan Senderek, Ingo W Husstedt
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 357 Issue 1-2 Pg. 115-8 (Oct 15 2015) ISSN: 1878-5883 [Electronic] Netherlands
• PMID: 26187298 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2015 Elsevier B.V. All rights reserved.

Chemical References

• C19orf12 protein, human
• Mitochondrial Proteins

Topics

• Adult
• Ataxia (genetics, pathology)
• Basal Ganglia (pathology)
• Female
• Hearing Loss (genetics, pathology)
• Homozygote
• Humans
• Intellectual Disability (genetics, pathology)
• Magnetic Resonance Imaging
• Mitochondrial Proteins (genetics)
• Mutation
• Neuroimaging
• Optic Atrophy (congenital, genetics, pathology)
• Spasm (genetics, pathology)
• Young Adult