Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

J Hum Genet. 2019 Jan;64(1):17-21. doi: 10.1038/s10038-018-0523-y. Epub 2018 Oct 18.

Abstract

Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two male siblings with X-linked spastic paraplegia 2 (PLP1). This work illustrates locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Protein Complex 4 / genetics*
  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Female
  • Genetic Heterogeneity
  • Humans
  • Infant
  • Male
  • Mutation*
  • Myelin Proteolipid Protein / genetics*
  • Pedigree
  • Phenotype
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology*
  • Young Adult

Substances

  • Adaptor Protein Complex 4
  • Myelin Proteolipid Protein
  • PLP1 protein, human