Skip to main content
Top
Published in: neurogenetics 4/2007

01-11-2007 | Letter to the Editors

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

Authors: Christian Beetz, Anders O. H. Nygren, Thomas Deufel, Evan Reid

Published in: Neurogenetics | Issue 4/2007

Login to get access

Excerpt

Sirs, …
Appendix
Available only for authorised users
Literature
3.
go back to reference Elliot JL (2004) Beginning to understand hereditary spastic paraplegia atlastin. Arch Neurol 61:1842–1843CrossRef Elliot JL (2004) Beginning to understand hereditary spastic paraplegia atlastin. Arch Neurol 61:1842–1843CrossRef
4.
5.
go back to reference Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Burk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schule R, Schols L, Sperfeld AD, Witte OW, Deufel T (2006) High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 67:1926–1930CrossRefPubMed Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Burk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schule R, Schols L, Sperfeld AD, Witte OW, Deufel T (2006) High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 67:1926–1930CrossRefPubMed
6.
go back to reference Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Durr A, Brice A (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66:112–114CrossRefPubMed Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Durr A, Brice A (2006) SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 66:112–114CrossRefPubMed
7.
go back to reference Zhu PP, Soderblom C, Tao-Cheng JH, Stadler J, Blackstone C (2006) SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Hum Mol Genet 15:1343–1353CrossRefPubMed Zhu PP, Soderblom C, Tao-Cheng JH, Stadler J, Blackstone C (2006) SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Hum Mol Genet 15:1343–1353CrossRefPubMed
8.
go back to reference Meijer IA, Dion P, Laurent S, Dupre N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA (2007) Characterization of a novel SPG3A deletion in a French-Canadian family. Ann Neurol 61:599–603CrossRefPubMed Meijer IA, Dion P, Laurent S, Dupre N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA (2007) Characterization of a novel SPG3A deletion in a French-Canadian family. Ann Neurol 61:599–603CrossRefPubMed
Metadata
Title
An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion
Authors
Christian Beetz
Anders O. H. Nygren
Thomas Deufel
Evan Reid
Publication date
01-11-2007
Publisher
Springer-Verlag
Published in
Neurogenetics / Issue 4/2007
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-007-0099-8

Other articles of this Issue 4/2007

neurogenetics 4/2007 Go to the issue