Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member of the AAA protein family. A cohort of 34 unrelated Italian patients with pure spastic paraplegia, of which 18 displayed autosomal dominant inheritance and 16 were apparently sporadic, were screened for mutations in the SPG4 gene by denaturing high performance liquid chromatography. We identified a previously reported mutation in a sporadic patient with pure hereditary spastic paraplegia. We also identified eight unrelated patients with pure autosomal dominant hereditary spastic paraplegia carrying five novel mutations in the SPG4 gene (one missense mutation, c.1304 C>T; one nonsense mutation, c.807C>A; two frameshift mutations, c.1281dupT, c.1514_1515insATA; and one splicing mutation, c.1322-2A>C). The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%. This study contributes to expand the spectrum of SPG4 mutations in Italian population.
Magariello
Angela
A
Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
Muglia
Maria
M
Patitucci
Alessandra
A
Mazzei
Rosalucia
R
Conforti
Francesca Luisa
FL
Gabriele
Anna Lia
AL
Sprovieri
Teresa
T
Ungaro
Carmine
C
Gambardella
Antonio
A
Mancuso
Michelangelo
M
Siciliano
Gabriele
G
Branca
Damiano
D
Aguglia
Umberto
U
de Angelis
Maria Vittoria
MV
Longo
Katia
K
Quattrone
Aldo
A