| Title: |
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. |
| Authors: |
Denora, P; 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.; Silvestri G (ORCID:0000-0002-1950-1468); Modoni A |
| Publisher Information: |
Elsevier country:ITA 2009 |
| Document Type: |
Electronic Resource |
| 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 |
| Index Terms: |
hsp; spg15; Settore MED/26 - NEUROLOGIA; info:eu-repo/semantics/article |
| URL: |
http://hdl.handle.net/10807/166579; info:eu-repo/semantics/altIdentifier/wos/WOS:000263187200005; volume:277; issue:1-2; firstpage:22; lastpage:25; numberofpages:4; issueyear:2008; journal:JOURNAL OF THE NEUROLOGICAL SCIENCES |
| Availability: |
Open access content. Open access content |
| Note: |
English |
| Other Numbers: |
SYC oai:publicatt.unicatt.it:10807/166579; 10.1016/j.jns.2008.09.039; 1242036166 |
| Contributing Source: |
UNIV CATTOLICA DEL SACRO CUORE; From OAIster®, provided by the OCLC Cooperative. |
| Accession Number: |
edsoai.on1242036166 |
| Database: |
OAIster |