Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family - 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; et al. (Neurological sciences, 2024)
Keywords: 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