Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy

Cristiana Lo Nigro, Roberto Cusano, Gian Luigi Gigli, Paola Forabosco, Mariarosaria Valente, Roberto Ravazzolo, Marina Diomedi, Marco Seri

Research output: Contribution to journalArticlepeer-review


We have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers D10S536 and D10S603, where different neurological disorders have been mapped. In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region. A few families affected with spastic paraplegia and epilepsy have been reported; in the present study, we tested a pedigree with concurrence of spastic paraplegia, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. Haplotype reconstruction excluded the linkage to 10q23.3-q24.2. In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed.

Original languageEnglish
Pages (from-to)116-121
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume117 A
Issue number2
Publication statusPublished - Mar 1 2003


  • Autosomal dominant spastic paraplegia
  • Epilepsy
  • Genetic heterogeneity
  • Linkage analysis
  • SPG9

ASJC Scopus subject areas

  • Genetics(clinical)


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