Mitra Ansari Dezfouli and Afagh Alavi contributed equally to this article.
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation
Version of Record online: 19 NOV 2012
Copyright © 2012 Movement Disorders Society
Volume 28, Issue 2, pages 228–231, February 2013
How to Cite
Dezfouli, M. A., Alavi, A., Rohani, M., Rezvani, M., Nekuie, T., Klotzle, B., Tonekaboni, S. H., Shahidi, G. A. and Elahi, E. (2013), PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. Mov. Disord., 28: 228–231. doi: 10.1002/mds.25271
Funding agencies: The Tehran University of Medical Sciences supported this work.
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue online: 23 FEB 2013
- Version of Record online: 19 NOV 2012
- Manuscript Accepted: 8 OCT 2012
- Manuscript Revised: 27 SEP 2012
- Manuscript Received: 12 JUN 2012
- neurodegeneration with brain iron accumulation;
- pantothenate kinase–associated neurodegeneration;
Neurodegeneration with brain iron accumulation (NBIA) constitutes a group of neurodegenerative disorders with pronounced iron deposition in the basal ganglia. PANK2 mutations are the most common cause of these disorders. C19orf12 was recently reported as another causative gene. We present phenotypic data and results of screening of PANK2 and C19orf12 in 11 unrelated Iranian NBIA patients.
Phenotypic data were obtained by neurologic examination, magnetic resonance imaging, and interviews. Mutation screening of PANK2 and C19orf12 was performed by sequencing.
PANK2 and C19orf12 mutations were found in 7 and 4 patients, respectively. Phenotypic comparisons suggest that C19orf12 mutations as compared with PANK2 mutations result in a milder disease course.
Mutations in both PANK2 and C19orf12 contributed significantly to NBIA in the Iranian patients. To the best of our knowledge, this is the first genetic analysis reported on a cohort of NBIA patients from the Middle East. © 2012 Movement Disorder Society