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Eur J Neurol. 2013 Mar;20(3):486-92. doi: 10.1111/j.1468-1331.2012.03883.x. Epub 2012 Oct 9.

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.

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  • 1Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, La Rabta, Tunis, Tunisia.



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.

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.

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