Autosomal dominant hereditary spastic paraplegia: Report of a large Italian family with R581X spastin mutation

P. Aridon, P. Ragonese, M. De Fusco, D. Lo Coco, G. Salemi, G. Casari, G. Savettieri

Research output: Contribution to journalArticle

Abstract

We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max) = 0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C>T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced penetrance, indicating that other genetic or environmental factors are required to trigger full-blown disease.

Original languageEnglish
Pages (from-to)171-174
Number of pages4
JournalNeurological Sciences
Volume28
Issue number4
DOIs
Publication statusPublished - Aug 2007

Keywords

  • Hereditary spastic paraplegia
  • Neurological disease
  • Spastin

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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