Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders
Article first published online: 8 OCT 2012
Published 2012. This article is a U.S. Government work and is in the public domain in the USA. European Journal of Neurology © 2012 EFNS
European Journal of Neurology
Volume 20, Issue 3, pages 486–492, March 2013
How to Cite
Hammer, M. B., Eleuch-Fayache, G., Gibbs, J. R., Arepalli, S. K., Chong, S. B., Sassi, C., Bouhlal, Y., Hentati, F., Amouri, R. and Singleton, A. B. (2013), Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders. European Journal of Neurology, 20: 486–492. doi: 10.1111/j.1468-1331.2012.03883.x
- Issue published online: 14 FEB 2013
- Article first published online: 8 OCT 2012
- Manuscript Accepted: 21 AUG 2012
- Manuscript Received: 4 MAY 2012
- APOB ;
- exome sequencing;
- SACS ;
Background and purpose
Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA.
To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing.
We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous variant in APOB, a gene previously associated with ataxia.
These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early-stage disease or cases with limited clinical data.