Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

C. Tzoulis, P. S. Denora, F. M. Santorelli, L. A. Bindoff

Research output: Contribution to journalArticle

Abstract

Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the first description of this disorder in the Norwegian population and, apart from mild ptosis in two siblings, the phenotype was essentially pure and late in onset.

Original languageEnglish
Pages (from-to)1142-1144
Number of pages3
JournalJournal of Neurology
Volume255
Issue number8
DOIs
Publication statusPublished - Aug 2008

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Keywords

  • HSP
  • Paraplegia
  • Paraplegin
  • Spastic
  • SPG7

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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