Phenotype and Genotype of Children with ALS2 gene-Related Disorder.

Introduction:  The Alsin Rho Guanine Nucleotide Exchange Factor ( gene encodes a protein alsin that functions as a guanine nucleotide exchange factor. The variations in gene leads to degeneration of upper motor neurons of the corticospinal tract. The phenotypes resulting from variants in gene are infantile-onset ascending hereditary spastic paralysis (IAHSP, OMIM # 607225), juvenile primary lateral sclerosis (JPLS, OMIM # 606353), and juvenile amyotrophic lateral sclerosis (JALS, OMIM # 205100).