Journal
BRAIN
Volume 138, Issue -, Pages 276-283Publisher
OXFORD UNIV PRESS
DOI: 10.1093/brain/awu348
Keywords
ataxia; whole exome sequencing
Categories
Funding
- Wellcome Trust Centre for Mitochondrial Research [096919Z/11/Z]
- Medical Research Council (UK) Centre for Translational Muscle Disease research [G0601943]
- EU FP7 TIRCON
- National Institute for Health Research (NIHR) Newcastle Biomedical Research Centre based at Newcastle upon Tyne Hospitals NHS Foundation Trust
- Newcastle University
- Medical Research Council (UK) [G1000848]
- European Research Council [309548]
- Bisby Fellowship from the Canadian Institutes of Health Research
- MRC Clinician Scientist Fellowship
- Wellcome Trust
- National Institute for Health Research (NIHR)
- Newcastle NIHR Biomedical Research Centre
- European Research Council
- Fight for Sight [1479/80] Funding Source: researchfish
- Medical Research Council [G1000848, G0701386, G0601943, G1002570] Funding Source: researchfish
- MRC [G0601943, G1000848, G1002570, G0701386] Funding Source: UKRI
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Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic, inherited and metabolic causes, we used an unbiased whole exome sequencing approach in 35 affected individuals, from 22 randomly selected families of white European descent. We defined the likely molecular diagnosis in 14 of 22 families (64%). This revealed de novo dominant mutations, validated disease genes previously described in isolated families, and broadened the clinical phenotype of known disease genes. The diagnostic yield was the same in both young and older-onset patients, including sporadic cases. We have demonstrated the impact of exome sequencing in a group of patients notoriously difficult to diagnose genetically. This has important implications for genetic counselling and diagnostic service provision.
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