All authors declare that they have no conflict of interest.
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration
Article first published online: 21 JAN 2013
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 4, pages 350–355, October 2013
How to Cite
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration., , , , , , .
- Issue published online: 11 SEP 2013
- Article first published online: 21 JAN 2013
- Accepted manuscript online: 20 DEC 2012 06:20AM EST
- Manuscript Revised: 12 DEC 2012
- Manuscript Accepted: 12 DEC 2012
- Manuscript Received: 15 NOV 2012
- Adult-onset NBIA;
- autozygosity mapping;
- rapid disease progression
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive degeneration of the central nervous system and high basal ganglia iron deposition. The list of identified causative genes for NBIA syndromes continues to expand and includes one autosomal dominant, one X-linked, and a number of recessive forms. Mitochondrial membrane protein-associated neurodegeneration is a recently described NBIA syndrome caused by C19orf12 mutations. In this study, we report two consanguineous families with a homozygous C19orf12 p.Thr11Met mutation. Our patients presented at a later age and had more rapid disease progression, leading to early death in two, than those previously reported. We conclude that C19orf12 mutation is associated with wide phenotypic heterogeneity, and that further research is needed to examine the role of C19orf12 in NBIA and related diseases and to elucidate its protein function as well as other factors that may affect disease progression and expression.