Wai Yan Yau

TL;DR: Non-parametric linkage analysis and genome sequencing are used to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist.

TL;DR: An update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques and the roles of antisense oligonucleotides and RNA-based therapy as potential treatments are discussed.

TL;DR: The full disease phenotype, including progression of ataxia, in 100 confirmed carriers of RFC1 repeat expansions is described, which should be considered in all cases of sensory ataxic neuropathy, particularly if cerebellar dysfunction, cerebellary involvement and cough coexist.

TL;DR: A single European case harbouring the pathogenic repeat expansion with a distinct haplotype structure is identified and a new diagnostic criteria is proposed as European NIID represents a distinct disease entity from East Asian cases.

TL;DR: A novel, possibly population-specific CANVAS configuration (AAAGG)10-25(AAGGG)exp, which was the cause ofCANVAS in all patients, and presence of a common disease haplotype among this cohort suggests this novel repeat expansion configuration is a founder effect in this population, which may indicate that CANvAS will be especially prevalent in this group.