A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Gabriella Silvestri, Marcella Masciullo, A. Tessa, M. F. De Leva, P. S. Denora, M. T. Dotti, C. Casali, M. A.B. Melone, A. Federico, A. Filla, F. M. Santorelli

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs – either in isolation (“pure” forms) or associated with an array of additional features (“complicated” forms) –, and great genetic heterogeneity – sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindred
Original languageEnglish
Pages (from-to)1090-1092
Number of pages3
JournalJournal of Neurology
Publication statusPublished - 2008

Keywords

  • KIF5A
  • SPG10

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