Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
Guilherme Carvalho de SouzaMaria Carolina MaltaMirele Raíssa Silva SantosMarshall Ítalo Barros FontesJuliana Lopes de Sousa AnjosDiego Patrício RibeiroFernando KokThalita FigueiredoPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
These individuals exhibit severe neurodevelopmental delays, encompassing symptoms such as spastic paraplegia, neuropathy, intellectual impairments, and language challenges. Through next-generation sequencing (NGS) techniques, a previously unreported homozygous variant within the ERLIN2 gene linked to spastic paraplegia 18 (SPG18) was identified across all four patients. Also, all patients displayed childhood cataract, expanding the known clinical spectrum of SPG18.