White matter abnormalities in 15 subjects with SPG76

• Published in: Journal of neurology Vol. 270; no. 12; pp. 5784 - 5792
• Main Authors: Alkhalifa, Abdulrahman, Chen, Shihan, Hasiloglu, Zehra Isik, Filosto, Massimiliano, Cali, Elisa, Houlden, Henry, Sgobbi de Souza, Paulo, Alavi, Afagh, Goizet, Cyril, Stevanin, Giovanni, Taithe, Frederic, Nicita, Francesco, Vasco, Gessica, Tozza, Stefano, Cocozza, Sirio, Carboni, Nicola, Figus, Andrea, Wu, Jianjun, Basak, A. Nazli, Brais, Bernard, Rouleau, Guy, La Piana, Roberta
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.12.2023; Springer Nature B.V; Springer Verlag
• Subjects: Atrophy; Calpain; Cerebellum; Genetic disorders; Hereditary spastic paraplegia; Humans; Life Sciences; Longitudinal studies; Magnetic Resonance Imaging; Medicine; Medicine & Public Health; Neurology; Neurons and Cognition; Neuroradiology; Neurosciences; Original Communication; Paraparesis, Spastic; Retrospective Studies; Spastic Paraplegia, Hereditary - diagnostic imaging; Spastic Paraplegia, Hereditary - genetics; Substantia alba; White Matter - diagnostic imaging; White Matter - pathology; Hereditary spastic paraplegia; White matter abnormalities; SPG76; CAPN1

Background and objectives Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of HSP, caused by biallelic calpain-1 ( CAPN1 ) variants. The most frequently described MRI abnormality in...