Friedreich’s ataxia (FXN expansions)

The prevalence of spinocerebellar ataxia (SCA) in the general population is estimated to be 2.7 per 100,000 individuals (Ruano et al., 2014). Friedreich ataxia is the most common hereditary ataxia in Caucasians, with an estimated incidence of 1/29,000 individuals and a frequency of 1/85 carriers. Between 2% and 13% of late-onset and sporadic ataxia cases are caused by nucleotide expansions detected by specific PCR/TP-PCR studies (Abele et al., 2002). Anticipation, consisting of early-onset and/or more severe disease in subsequent generations, is a characteristic phenomenon of ataxias. Apart from testing for nucleotide repeat expansions, we have designed NGS panels for the detection of point variants and CNVs in genes responsible for SCA (SPG7, SETX, SACS, AFG3L2, or SYNE1, among others; Galatolo et al., 2017), which we offer structured according to the mode of inheritance (autosomal dominant or autosomal recessive).