A De Novo Missense NPTX1 Variant in an Individual with Infantile‐Onset Cerebellar Ataxia

Abstract

2%). Other less common forms of ARCA represented 13% of the cases, including AOA type 1, ANO10, and STUB1 (Supplemental Material). This is the first multicentric study that provides information about epidemiology and frequency of ARCA in South America, and the largest ARCA frequency study worldwide. Our data are compatible with the literature regarding the most common forms of ARCA, but highlight the fact that ARSACS and NPC1 might be more common than previously thought, and provide the first real-world frequency estimates for the fairly recently identified RFC1 ARCA. 5 This study is limited by its retrospective nature. Also, it is possible that patients with undetermined ataxia are still poorly investigated through exome sequencing in South America. This, however, renders our population an interesting opportunity to identify new genes and knowledge on epidemiological features in ARCA. Moreover, our observations are relevant to the current planning of upcoming gene therapy and clinical trials in ARCAs.