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. 2009-02-01; 277(1-2): 22-25
DOI: 10.1016/j.jns.2008.09.039
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1. J Neurol Sci. 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.
Denora PS(1), Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis
A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF,
Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone
A, Filla A, Brice A, Stevanin G, Santorelli FM.
Author information:
(1)Molecular Medicine & Neurology, IRCCS Bambino Gesù Hospital, Rome, Italy.
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.
DOI: 10.1016/j.jns.2008.09.039
PMID: 19084844 [Indexed for MEDLINE]