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

Gabriella Silvestri, Anna Modoni, PS Denora, M Muglia, C Casali, J Truchetto, D Messina, A Boukrhis, A Magariello, M Masciullo, A Malandrini, M Morelli, Leva MF de, M Villanova, E Giugni, L Citrigno, T Rizza, A Federico, A Pierallini, A QuattroneA Filla, A Brice, G Stevanin, FM. Santorelli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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
Lingua originaleEnglish
pagine (da-a)22-25
Numero di pagine4
RivistaJournal of the Neurological Sciences
Stato di pubblicazionePubblicato - 2008

Keywords

  • spg15
  • hsp

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