Novel SPG3A and SPG4 mutations in two patients with Silver syndrome

J Clin Neuromuscul Dis. 2009 Sep;11(1):57-9. doi: 10.1097/CND.0b013e3181ae3c06.

Abstract

Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A (Atlastin). These cases suggest that Silver syndrome may be associated with a wider variety of genotypes than previously described.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adult
  • Anterior Horn Cells / metabolism
  • Anterior Horn Cells / pathology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • GTP Phosphohydrolases / genetics*
  • GTP-Binding Proteins
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Membrane Proteins
  • Middle Aged
  • Motor Neuron Disease / diagnosis
  • Motor Neuron Disease / genetics
  • Motor Neuron Disease / physiopathology
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology
  • Muscle Weakness / physiopathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics*
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology*
  • Spastin
  • Syndrome

Substances

  • Membrane Proteins
  • ATL1 protein, human
  • Adenosine Triphosphatases
  • GTP Phosphohydrolases
  • GTP-Binding Proteins
  • Spastin
  • SPAST protein, human