ALS2-related disorders in Spanish children

Neurol Sci. 2021 May;42(5):2091-2094. doi: 10.1007/s10072-020-04899-0. Epub 2021 Jan 7.

Abstract

ALS2 gene encoding for alsin protein is responsible for neurological disorders due to retrograde degeneration of the upper motor neurons of the pyramidal tracts, inherited in an autosomal recessive manner, and displaying a clinical continuum including the infantile ascending hereditary spastic paraplegiaidentified in three Spanish children presented here.

Keywords: ALS2; ALS2-related disorders; IAHSP; Infantile ascending hereditary spastic paraplegia; Spanish children.

MeSH terms

  • Amyotrophic Lateral Sclerosis*
  • Child
  • DNA Mutational Analysis
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Spastic Paraplegia, Hereditary* / diagnosis
  • Spastic Paraplegia, Hereditary* / epidemiology
  • Spastic Paraplegia, Hereditary* / genetics

Substances

  • ALS2 protein, human
  • Guanine Nucleotide Exchange Factors

Supplementary concepts

  • Amyotrophic Lateral Sclerosis 2, Juvenile