A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

Neurology. 2004 May 25;62(10):1875-8. doi: 10.1212/01.wnl.0000125324.32082.d9.

Abstract

The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary spastic paraplegia and congenital arachnoid cysts inherited as an autosomal dominant trait. A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adenosine Triphosphatases / physiology
  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Substitution
  • Anticipation, Genetic
  • Arachnoid Cysts / congenital
  • Arachnoid Cysts / epidemiology
  • Arachnoid Cysts / genetics*
  • Arachnoid Cysts / pathology
  • Cerebral Cortex / pathology
  • Codon / genetics
  • Dementia / genetics
  • Exons / genetics
  • Female
  • Foot Deformities / genetics
  • Genes, Dominant
  • Humans
  • Intellectual Disability / genetics
  • Italy / epidemiology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Pyramidal Tracts / pathology
  • Spastic Paraplegia, Hereditary / epidemiology
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology
  • Spastin

Substances

  • Codon
  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human