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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|Titolo:||SPASTIC PARAPLEGIA WITH THINNING OF THE CORPUS CALLOSUM AND WHITE MATTER ABNORMALITIES: FURTHER MUTATIONS AND RELATIVE FREQUENCY IN ZFYVE26/SPG15 IN THE ITALIAN POPULATION.|
|Rivista:||JOURNAL OF THE NEUROLOGICAL SCIENCES|
|Citazione:||Denora, P.s., Muglia, M., Casali, C., Truchetto, J., Silvestri, G., Messina, D., et al. (2009). SPASTIC PARAPLEGIA WITH THINNING OF THE CORPUS CALLOSUM AND WHITE MATTER ABNORMALITIES: FURTHER MUTATIONS AND RELATIVE FREQUENCY IN ZFYVE26/SPG15 IN THE ITALIAN POPULATION. JOURNAL OF THE NEUROLOGICAL SCIENCES, 277(1-2), 22-25.|
|Appare nelle tipologie:||1.1 Articolo in rivista|