Visual Pathways Involvement in Friedreich's Ataxia Patients Without Macular Impairment.
Authors: Parisi V, Barbano L, Di Renzo A, Dell'Aquila C, D'Andrea M, Castelluzzo AM, Colacino G, Gioiosa V, Coppola G, Casali C, Ziccardi L
Journal: Journal of clinical medicine
bipolar disorder
mental health
open access
Abstract
The identification of SPOUT1/CENP-32 as a disease-causing gene in humans is a recent development, with the associated disorder first delineated in 2024–2025. SPOUT1 (also known as CENP-32 or C9orf114) encodes a putative RNA methyltransferase belonging to the SPOUT superfamily. The protein localizes to mitotic spindles and kinetochores, where it plays a critical role in centrosome organization and faithful chromosome segregation. This study reports a new case of the recently described SpADMiSS (SPOUT1-Associated Developmental delay, Microcephaly, Seizures, and Short stature) syndrome caused by a recurrent homozygous (p.Gly98Ser) variant.