Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3

Ann Clin Lab Sci. 2010 Fall;40(4):375-9.

Abstract

Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity in the lower extremities. Mutations in the atlastin GTPase 1 (ATL1) gene cause approximately 10% of autosomal dominantly inherited HSP. For many subjects with an ATL1 mutation, spastic gait begins in early childhood and does not significantly worsen, even over many years; such cases resemble spastic diplegic cerebral palsy. Herein we report a heterozygous R239C mutation in the ATL1 gene in a Korean family. The family members exhibited early onset pure spastic paraplegia and had been previously diagnosed with the diplegic form of cerebral palsy. We suggest that spastic paraplegia type 3 (SPG3A) be included in the differential diagnosis of early onset spastic paraplegia. To the best of our knowledge, this is the first report of a genetically confirmed family affected with SPG3A in Korea.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Asian People / genetics*
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Family
  • Female
  • GTP Phosphohydrolases / genetics
  • GTP-Binding Proteins
  • Humans
  • Infant
  • Male
  • Membrane Proteins
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Spastic Paraplegia, Hereditary / enzymology
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology*
  • Young Adult

Substances

  • Membrane Proteins
  • ATL1 protein, human
  • GTP Phosphohydrolases
  • GTP-Binding Proteins