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Spastic paraplegia in Romania: high prevalence of SPG4 mutations
  1. A Orlacchio1,2,
  2. C Patrono1,
  3. A Borreca1,2,
  4. C Babalini1,
  5. G Bernardi1,2,
  6. T Kawarai3
  1. 1
    Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy
  2. 2
    Dipartimento di Neuroscienze, Universitè di Roma “Tor Vergata”, Rome, Italy
  3. 3
    Department of Neurology, Hyogo Brain and Heart Center, Himeji City, Japan
  1. Dr Antonio Orlacchio, Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC)—Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, 64 Via del Fosso di Fiorano, Rome 00143, Italy; a.orlacchio{at}

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Hereditary spastic paraplegia (HSP) includes a heterogeneous group of neurodegenerative disorders with the characteristics of slowly progressive spasticity and weakness of the lower limbs. It can be inherited in an autosomal-dominant, autosomal-recessive or X-linked fashion.1 Until now, 38 loci have been registered at the HUGO database ( and 15 causative genes have already been described. The most common form of autosomal-dominant HSP, 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.


Between 1990 and 2007, a total of 30 unrelated Romanian patients with SP who had emigrated to Italy were included in the study. Twenty-three affected individuals had a family history of autosomal-dominant traits, and 7 patients had no family history or information about the health status of family members was limited. Participants were recruited as Romanian if they were born in, or originated from, Romania. All …

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  • Funding: This study was supported by the Comitato Telethon Fondazione Onlus, the Amministrazione Autonoma dei Monopoli di Stato (AAMS), and the city of Gubbio (Italy; grant no. GGP06209 to AO), the Italian Ministero della Salute (grant nos. EBRI1.O, PS05.21, PS04.2O and RF04.125O to AO) and the Lundbeck Foundation (Denmark; grant no. COFIN04.125O to AO).

  • Funding: None declared.