Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
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.
Denora
Paola S
PS
Molecular Medicine & Neurology, IRCCS Bambino Gesù Hospital, Rome, Italy.
Muglia
Maria
M
Casali
Carlo
C
Truchetto
Jérémy
J
Silvestri
Gabriella
G
Messina
Demetrio
D
Boukrhis
Amir
A
Magariello
Angela
A
Modoni
Anna
A
Masciullo
Marcella
M
Malandrini
Alessandro
A
Morelli
Maurizio
M
de Leva
Maria Fulvia
MF
Villanova
Marcello
M
Giugni
Elisabetta
E
Citrigno
Luigi
L
Rizza
Teresa
T
Federico
Antonio
A
Pierallini
Alberto
A
Quattrone
Aldo
A
Filla
Alessandro
A
Brice
Alexis
A
Stevanin
Giovanni
G
Santorelli
Filippo M
FM
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
D011506:Proteins; C520412:SPG11 protein, human