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Case Reports
. 2009 Feb 15;277(1-2):22-5.
doi: 10.1016/j.jns.2008.09.039. Epub 2008 Dec 13.

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

Paola S Denora  1 , Maria Muglia, Carlo Casali, Jérémy Truchetto, Gabriella Silvestri, Demetrio Messina, Amir Boukrhis, Angela Magariello, Anna Modoni, Marcella Masciullo, Alessandro Malandrini, Maurizio Morelli, Maria Fulvia de Leva, Marcello Villanova, Elisabetta Giugni, Luigi Citrigno, Teresa Rizza, Antonio Federico, Alberto Pierallini, Aldo Quattrone, Alessandro Filla, Alexis Brice, Giovanni Stevanin, Filippo M Santorelli
Affiliations
Case Reports

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

Paola S Denora et al. J Neurol Sci. .

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.

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