학술논문
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Document Type
Academic Journal
Author
Denora PS; Molecular Medicine & Neurology, IRCCS Bambino Gesù Hospital, Rome, Italy.; 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
Source
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0022-510X (Print) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
Subject
Language
English
ISSN
0022-510X
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.