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. 2013 Mar;20(3):486-492.
doi: 10.1111/j.1468-1331.2012.03883.x. Epub 2012 Oct 9.

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

M B Hammer  1   2 , G Eleuch-Fayache  1 , J R Gibbs  2   3 , S K Arepalli  2 , S B Chong  2 , C Sassi  2   3 , Y Bouhlal  4 , F Hentati  1 , R Amouri  1 , A B Singleton  2
Affiliations

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

M B Hammer et al. Eur J Neurol. 2013 Mar.

Abstract

Background and purpose: Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA.

Methods: To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing.

Results: 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.

Conclusions: 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.

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Figures

Figure 1
Figure 1
Family pedigrees
Figure 2
Figure 2
Chromatograms showing the different mutations identified
See this image and copyright information in PMC

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