Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype

J Neurol. 2008 Jun;255(6):927-8. doi: 10.1007/s00415-008-0598-z. Epub 2008 Apr 30.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Codon
  • DNA Mutational Analysis
  • Disease Progression
  • Exons / genetics
  • GTP Phosphohydrolases / chemistry
  • GTP Phosphohydrolases / genetics*
  • GTP-Binding Proteins
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Membrane Proteins
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / innervation
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology*
  • Muscular Atrophy / genetics
  • Muscular Atrophy / pathology
  • Muscular Atrophy / physiopathology
  • Mutation / genetics*
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / pathology
  • Peripheral Nervous System Diseases / physiopathology
  • Phenotype
  • Protein Structure, Tertiary / genetics
  • Severity of Illness Index
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology
  • Spastic Paraplegia, Hereditary / physiopathology
  • Sural Nerve / pathology
  • Wallerian Degeneration / genetics
  • Wallerian Degeneration / pathology
  • Wallerian Degeneration / physiopathology

Substances

  • Codon
  • Genetic Markers
  • Membrane Proteins
  • ATL1 protein, human
  • GTP Phosphohydrolases
  • GTP-Binding Proteins