Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

• Published in: Annals of clinical and translational neurology Vol. 9; no. 4; pp. 570 - 576
• Main Authors: Alecu, Julian E., Saffari, Afshin, Jumo, Hellen, Ziegler, Marvin, Strelko, Oleksandr, Brownstein, Catherine A., Gonzalez‐Heydrich, Joseph, Rodan, Lance H., Gorman, Mark P., Sahin, Mustafa, Ebrahimi‐Fakhari, Darius
• Format: Journal Article
• Language: English; Spanish
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2022; John Wiley & Sons, Inc; Wiley
• Subjects: Adolescent; Age; Amino acids; Brief Communication; Brief Communications; Calpain - genetics; Enzymes; Fibroblasts; Humans; Hydrogen bonds; Mutation; Paralysis; Pedigree; Proteins; Psychosis; Psychotic Disorders - genetics; Spastic Paraplegia, Hereditary - genetics; Spasticity; United States > US

CAPN1‐associated hereditary spastic paraplegia (SPG76) is a rare and clinically heterogenous syndrome due to loss of calpain‐1 function. Here we illustrate a translational approach to the case of an 18‐year‐old patient who first presented with psychiatric symptoms followed by spastic gait, intention...