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Spastic paraplegia in Romania: high prevalence of SPG4 mutations
  1. A Orlacchio (a.orlacchio{at}hsantalucia.it)
  1. CERC-IRCCS Santa Lucia, Italy
    1. C Patrono
    1. CERC-IRCCS Santa Lucia, Italy
      1. A Borreca
      1. CERC-IRCCS Santa Lucia, Italy
        1. C Babalini
        1. CERC-IRCCS Santa Lucia, Italy
          1. G Bernardi
          1. CERC-IRCCS Santa Lucia, Italy
            1. T Kawarai
            1. Hyogo Brain and Heart Center, Japan

              Abstract

              Hereditary spastic paraplegia (HSP) includes a heterogeneous group of neurodegenerative disorders with the characteristics of slowly progressive spasticity and weakness of the lower limbs. HSP can be inherited in autosomal dominant (AD), autosomal recessive (AR), or X-linked fashion. 1 Until now, 38 loci have been registered at the HUGO database (http://www.genenames.com/) and 15 causative genes have already been described. The most common form of ADHSP, accounting for approximately 40% of affected individuals, is due to mutations in the SPG4 gene. 2, 3 The defective SPG4 gene encodes spastin, a 616 amino acid protein belonging to the AAA family (ATPases Associated with diverse cellular Activities). The protein is expressed ubiquitously and has a critical biological role in the regulation of microtubule severing. 2, 4 The aim of this study was to investigate the SPG4 mutation profile in Romanian patients with spastic paraplegia (SP) and to describe them in the context of the corresponding clinical phenotype.

              • <it>SPG4</it>
              • Molecular diagnostic testing
              • Population genetics
              • Spastic Paraplegia

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