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Publication Detail
Novel mutation in SPG11 in a patient with hereditary spastic paraplegia: Clinical, electrophysiological and molecular findings
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Berardo A, Schottlaender L, Leiguarda R, Houlden H, Reisin R
  • Publication date:
  • Pagination:
    155, 159
  • Journal:
    Neurologia Argentina
  • Volume:
  • Issue:
  • Status:
  • Print ISSN:
Introduction Complicated hereditary spastic paraplegias (CHSP) embrace conditions in which different neurological symptoms are present other than the «classical» corticospinal involvement. In cases associated with corpus callosum atrophy, mutations in SPG11 and less frequently in SPG15, are common findings. Case report 39 year-old Italian patient with normal birth and development, that began around 23 years of age with gait problems defined as progressive instability, stiffness in her legs and falls. There was no sphincter involvement. These conditions slowly progressed up to the point to impede her walking. Genetic investigations detected two novel compound heterozygous mutations in SPG11. Conclusions We describe typical clinical findings in a case with complicated hereditary spastic paraplegia associated with corpus callosum atrophy due to two novel mutations in SGP11. Both variants are predicted to be pathogenic and segregate with disease in her family. Corpus callosum atrophy either as early or late finding should prompt SPG11 mutation analysis. © 2014 Sociedad Neurológica Argentina. Published by Elsevier España, S.L.U. All rights reserved.
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