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This Article Full Text Full Text (PDF) web only appendix All Versions of this Article: jnnp.2007.128827v1 79/5/606    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Google Scholar Articles by Orlacchio, A Articles by Kawarai, T PubMed PubMed Citation Articles by Orlacchio, A Articles by Kawarai, T

Spastic paraplegia in Romania: high prevalence of SPG4 mutations

¹ Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy
² Dipartimento di Neuroscienze, Universitè di Roma "Tor Vergata", Rome, Italy
³ Department of Neurology, Hyogo Brain and Heart Center, Himeji City, Japan

Correspondence to:
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@hsantalucia.it

The first 150 words of the full text of this article appear below.

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 (http://www.genenames.org/) 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 . . . [Full text of this article]