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. (C) 2008 Published by Elsevier B.V.

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; Maria, Muglia; Casali, Carlo; Jeremy, Truchetto; Gabriella, Silvestri; Demetrio, Messina; Amir, Boukrhis; Angela, Magariello; Anna, Modoni; Marcella, Masciullo; Alessandro, Malandrini; Maurizio, Morelli; M. F., De Leva; Marcello, Villanova; Elisabetta, Giugni; Luigi, Citrigno; Teresa, Rizza; Antonio, Federico; Pierallini, Alberto; Aldo, Quattrone; Alessandro, Filla; Alexis, Brice; Giovanni, Stevanin; Filippo M., Santorelli. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 277:1-2(2009), pp. 22-25. [10.1016/j.jns.2008.09.039]

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

CASALI, Carlo;PIERALLINI, Alberto;
2009

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. (C) 2008 Published by Elsevier B.V.
2009
hsp; spastic paraplegia; spg15; tcc; zfyve26
01 Pubblicazione su rivista::01a Articolo in rivista
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; Maria, Muglia; Casali, Carlo; Jeremy, Truchetto; Gabriella, Silvestri; Demetrio, Messina; Amir, Boukrhis; Angela, Magariello; Anna, Modoni; Marcella, Masciullo; Alessandro, Malandrini; Maurizio, Morelli; M. F., De Leva; Marcello, Villanova; Elisabetta, Giugni; Luigi, Citrigno; Teresa, Rizza; Antonio, Federico; Pierallini, Alberto; Aldo, Quattrone; Alessandro, Filla; Alexis, Brice; Giovanni, Stevanin; Filippo M., Santorelli. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 277:1-2(2009), pp. 22-25. [10.1016/j.jns.2008.09.039]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/230563
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