Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family

• Published in: Neurological sciences Vol. 45; no. 9; pp. 4373 - 4381
• Main Authors: Trinchillo, Assunta, Valente, Valeria, Esposito, Marcello, Migliaccio, Miriana, Iovino, Aniello, Picciocchi, Michele, Cuomo, Nunzia, Caccavale, Carmela, Nocerino, Cristofaro, De Rosa, Laura, Salvatore, Elena, Pierantoni, Giovanna Maria, Menchise, Valeria, Paladino, Simona, Criscuolo, Chiara
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.09.2024; Springer Nature B.V
• Subjects: Adolescent; Adult; Aged; Amyotrophic lateral sclerosis; Child; Endoplasmic reticulum; Epilepsy; Female; Genes, Dominant; Genotype & phenotype; Genotypes; Hereditary spastic paraplegia; Humans; Male; Medicine; Medicine & Public Health; Membrane Proteins - genetics; Middle Aged; Mutation; Neurology; Neuroradiology; Neurosurgery; Oligomerization; Original; Original Article; Paralysis; Pedigree; Phenotype; Phenotypes; Psychiatry; Spastic Paraplegia, Hereditary - genetics; Spasticity; Young Adult; ERLIN2; Hereditary spastic paraplegia (HSP); Amyotrophic lateral sclerosis (ALS); SPG18

Background SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 ( ERLIN2 ) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18. Aim To define...