White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary spastic paraplegias (HSPs) are relatively frequent disorders presenting great genetic heterogeneity. The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients by high-resolution melting screening combined with direct sequencing. We present two patients who harbored three mutations (including two novel variants) in SPG5/CYP7B1 and white matter involvement evidenced at brain MRI. In HSP patients in whom no other genes were mutated, screening of SPG5/CYP7B1 seems to have a low diagnostic yield in autosomal recessive (8%) and sporadic (

Original languageEnglish
Pages (from-to)62-65
Number of pages4
JournalNeuromuscular Disorders
Volume19
Issue number1
DOIs
Publication statusPublished - Jan 2009

Keywords

  • HRM
  • Mutation
  • Spastic paraplegia
  • SPG5
  • White matter

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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