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.
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.
authors.affiliation: Molecular Medicine & Neurology, IRCCS Bambino Gesù Hospital, Rome, Italy.
authors.forename: Paola S
authors.initials: PS
authors.lastname: Denora
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.forename: Jérémy
authors.initials: J
authors.lastname: Truchetto
authors.forename: Gabriella
authors.initials: G
authors.lastname: Silvestri
authors.forename: Demetrio
authors.initials: D
authors.lastname: Messina
authors.forename: Amir
authors.initials: A
authors.lastname: Boukrhis
authors.forename: Angela
authors.initials: A
authors.lastname: Magariello
authors.forename: Anna
authors.initials: A
authors.lastname: Modoni
authors.forename: Marcella
authors.initials: M
authors.lastname: Masciullo
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.forename: Maurizio
authors.initials: M
authors.lastname: Morelli
authors.forename: Maria Fulvia
authors.initials: MF
authors.lastname: de Leva
authors.forename: Marcello
authors.initials: M
authors.lastname: Villanova
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Giugni
authors.forename: Luigi
authors.initials: L
authors.lastname: Citrigno
authors.forename: Teresa
authors.initials: T
authors.lastname: Rizza
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.forename: Alberto
authors.initials: A
authors.lastname: Pierallini
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000293:Adolescent; D000328:Adult; D003337:Corpus Callosum / Q000473:pathology*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010264:Paraplegia / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D011506:Proteins; C520412:SPG11 protein, human