Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia
Articolo
Data di Pubblicazione:
2006
Citazione:
Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia / F. Crippa, C. Panzeri, A. Martinuzzi, A. Arnoldi, F. Redaelli, A. Tonelli, C. Baschirotto, G. Vazza, M.L. Mostacciuolo, A. Daga, G. Orso, P. Profice, A. Trabacca, M.G. D'Angelo, G.P. Comi, S. Galbiati, C. Lamperti, S. Bonato, M. Pandolfo, G. Meola, O. Musumeci, A. Toscano, C.P. Trevisan, N. Bresolin, M.T. Bassi. - In: ARCHIVES OF NEUROLOGY. - ISSN 0003-9942. - 63:5(2006), pp. 750-755. [10.1001/archneur.63.5.750]
Abstract:
Background: Hereditary spastic paraplegia (HSP) is a
group of genetically heterogeneous disorders characterized
by progressive spasticity of the lower limbs. Mutations
in the SPG4 gene, which encodes spastin protein, are
responsible for up to 45% of autosomal dominant cases.
Objective: To search for disease-causing mutations in
a large series of Italian patients with HSP.
Design: Samples of DNA were analyzed by direct sequencing
of all exons in SPG4. Samples from a subset of
patients were also analyzed by direct sequencing of all
exons in SPG3A, SPG6, SPG10, and SPG13.
Setting: Molecular testing facility in Italy.
Patients: Sixty unrelated Italian patients with pure
(n=50) and complicated (n=10) HSP.
Main Outcome Measures: Mutations in SPG4, SPG3A,
SPG6, SPG10, and SPG13.
Results:Weidentified 12 different mutations, 8 of which
were novel, in 13 patients. No mutations of any of the
other HSP genes tested were found in 15 patients with
sporadic pure HSP who did not have mutations in the
SPG4 gene.
Conclusions: The overall rate of mutation in the SPG4
gene within our sample was 22%, rising to 26% when only
patients with pure HSP were considered. The negative
result obtained in 15 patients without mutations in SPG4
in whom 4 other genes were analyzed (SPG3A, SPG6,
SPG10, and SPG13) indicate that these genes are not frequently
mutated in sporadic pure HSP
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
F. Crippa, C. Panzeri, A. Martinuzzi, A. Arnoldi, F. Redaelli, A. Tonelli, C. Baschirotto, G. Vazza, M.L. Mostacciuolo, A. Daga, G. Orso, P. Profice, A. Trabacca, M.G. D'Angelo, G.P. Comi, S. Galbiati, C. Lamperti, S. Bonato, M. Pandolfo, G. Meola, O. Musumeci, A. Toscano, C.P. Trevisan, N. Bresolin, M.T. Bassi
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