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

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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.

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References

  1. Casari G, De Fusco M, Ciarmatori S, et al. (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973–983

    Article  PubMed  CAS  Google Scholar 

  2. De Michele G, De Fusco M, Cavalcanti F, et al. (1998) A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24. 3. Am J Hum Genet 63:135–139

    Article  PubMed  CAS  Google Scholar 

  3. Elleuch N, Depienne C, Benomar A, et al. (2006) Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology 14; 66(5):654–659

    Article  PubMed  CAS  Google Scholar 

  4. McDermott CJ, White K, Bushby K, Shaw PJ (2000) Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry 69:150–160

    Article  PubMed  CAS  Google Scholar 

  5. Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, Langer T (2005) The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell 123(2):277–289

    Article  PubMed  CAS  Google Scholar 

  6. Online Mendelian Inheritance in Man, OMIM (TM) (2007) McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), {downloaded 01. 03. 07}. World Wide Web URL: http:// www. ncbi. nlm. nih. gov/omim/

  7. Wain HM, Lush MJ, Ducluzeau F, Khodiyar VK, Povey S (2004) Genew: the Human Gene Nomenclature Database, 2004 updates. Nucleic Acids Res 32 Database issue:D255-7. (PMID: 14681406)

  8. Wilkinson PA, Crosby AH, Turner C, et al. (2004) A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 127(Pt 5):973–980

    Article  PubMed  Google Scholar 

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Correspondence to L. A. Bindoff.

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Tzoulis, C., Denora, P.S., Santorelli, F.M. et al. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. J Neurol 255, 1142–1144 (2008). https://doi.org/10.1007/s00415-008-0858-y

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  • DOI: https://doi.org/10.1007/s00415-008-0858-y

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