Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

Michele Falco, Carmela Scuderi, Sebastiano Musumeci, Maurizio Sturnio, Marcella Neri, Stefania Bigoni, Luisa Caniatti, Marco Fichera

Research output: Contribution to journalArticlepeer-review


The most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family of ATPases. In the current study, we designed a denaturing high-performance liquid chromatography based protocol for the analysis of the SPG4 gene. Using this method, we detected two novel missense mutations, 1375A>G (R459G) and 1378C>T (R460C), one previously described five bases deletion (1215_1219del) and three polymorphic changes. This study suggests that denaturing high-performance liquid chromatography would be a fast and reliable tool in the investigation of the molecular defects in the SPG4 gene.

Original languageEnglish
Pages (from-to)750-753
Number of pages4
JournalNeuromuscular Disorders
Issue number11
Publication statusPublished - Nov 2004


  • Dominance
  • Spastic paraparesis
  • Spastin
  • SPG4

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology


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