Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

• Published in: Journal of the neurological sciences Vol. 277; no. 1; pp. 22 - 25
• Main Authors: Denora, Paola S, Muglia, Maria, Casali, Carlo, Truchetto, Jérémy, Silvestri, Gabriella, Messina, Demetrio, Boukrhis, Amir, Magariello, Angela, Modoni, Anna, Masciullo, Marcella, Malandrini, Alessandro, Morelli, Maurizio, de Leva, Maria Fulvia, Villanova, Marcello, Giugni, Elisabetta, Citrigno, Luigi, Rizza, Teresa, Federico, Antonio, Pierallini, Alberto, Quattrone, Aldo, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, Santorelli, Filippo M
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 15.02.2009; Elsevier
• Subjects: Adolescent; Adult; Biological and medical sciences; Corpus Callosum - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Haplotypes; HSP; Humans; Italy; Magnetic Resonance Imaging; Male; Medical sciences; Nerve Fibers, Myelinated - pathology; Neurology; Paraplegia - genetics; Paraplegia - pathology; Pedigree; Point Mutation; Proteins - genetics; Spastic paraplegia; SPG15; TCC; Young Adult; ZFYVE26; Italy; SPG15; ZFYVE26; HSP; Spastic paraplegia; TCC; Italian; Nervous system diseases; Motor system disorder; White matter; Corpus callosum; Paraplegia; Mutation; Neurological disorder
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2008.09.039

Abstract Spastic paraplegia with thinning of the corpus callosum (ARHSP-TCC) is a relatively frequent form of complicated hereditary spastic paraplegia in which mental retardation and muscle stiffness at onset are followed by slowly progressive paraparesis and cognitive deterioration. Although genetically heterogeneous, ARHSP-TCC is frequently associated with mutations in the SPG11 gene, on chromosome 15q. However, it is becoming evident that ARHSP-TCC can also be the clinical presentation of mutations in ZFYVE26 (SPG15) , as shown by the recent identification of eight families with a variable phenotype. Here, we present an additional Italian ARHSP-TCC patient harboring two new, probably loss-of-function mutations in ZFYVE26 . This finding, together with the report of a mutation in another Italian family, provides confirmation that ZFYVE26 is the second gene responsible for ARHSP-TCC in the Italian population.