Introduction: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by pathogenic variants in CYP27A1 , leading to cholestanol accumulation and progressive neurological dysfunction. Neurofilament light chain (NfL) is a biomarker of neuroaxonal injury in several hereditary ataxias, but its role in CTX has not been investigated. We aimed to determine whether serum NfL is elevated in CTX and whether i...

Discriminant molecular markers are required for research on population genetics, as well as evolutionary studies involving identification of hybrids and parental species, or detection of the genome regions under selection. We provide a set of 27 transcriptomic microsatellite markers (SSRs) for South American Nothofagus species, derived from 73 Nothofagus alpina ( = N. nervosa) annotated unigenes. Rates of cross‐amplification r...