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Abstract

Background: Spinocerebellar ataxias are often caused by expansions of short tandem repeats. Recent methodological advances have made repeat expansion (RE) detection with whole-genome sequencing (WGS) feasible. Objectives: The objective of this study was to determine the genetic basis of ataxia in a multigenerational Australian pedigree with autosomal-dominant inheritance. Methods and results: WGS was performed on 3 affected relatives. The sequence data were screened for known pathogenic REs using 2 RE detection tools: exSTRa and ExpansionHunter. This screen provided a clear and rapid diagnosis (NOP56. Conclusions: The diagnosis of rare ataxias caused by REs is highly feasible and cost-effective with WGS. We propose that WGS could potentially be implemented as the frontline, cost-effective methodology for the molecular testing of individuals with a clinical diagnosis of ataxia.

Item Type:	Article
Authors/Creators:	Rafehi, H and Szmulewicz, DJ and Pope, K and Wallis, M and Christodoulou, J and White, SM and Delatycki, MB and Lockhart, PJ and Bahlo, M
Keywords:	ataxia, diagnosis, exSTRa, repeat expansions, short tandem repeats
Journal or Publication Title:	Movement Disorders
Publisher:	Wiley-Liss
ISSN:	0885-3185
DOI / ID Number:	10.1002/mds.28105
Copyright Information:	© 2020 International Parkinson and Movement Disorder Society
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