Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

M. Muglia, C. Criscuolo, A. Magariello, G. De Michele, V. Scarano, P. D'Adamo, G. Ambrosio, A. L. Gabriele, A. Patitucci, R. Mazzei, F. L. Conforti, T. Sprovieri, L. Morgante, A. Epifanio, P. La Spina, P. Valentino, P. Gasparini, A. Filla, A. Quattrone

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary spastic paraplegias are neurodegenerative disorders characterized clinically by progressive spasticity of the lower limbs. They are inherited as autosomal dominant, autosomal recessive, and X-linked traits. Four Italian families with autosomal recessive pure spastic paraplegia are reported. We show evidence of linkage to the SPG5 locus on chromosome 8p and our data reduce the candidate interval for SPG5 to the 11-cM interval spanned by D8S285 and D8S544. We also report the search for mutations in five genes located in the region and their exclusion as candidates for SPG5.

Original languageEnglish
Pages (from-to)49-54
Number of pages6
JournalNeurogenetics
Volume5
Issue number1
DOIs
Publication statusPublished - Feb 2004

Keywords

  • Association
  • Candidate genes
  • Hereditary spastic paraplegia
  • Linkage
  • SPG5 locus

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

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