Beginning to understand hereditary spastic paraplegia atlastin

Editorial

Jeffrey L Elliott. Arch Neurol. 2004 Dec.

. 2004 Dec;61(12):1842-3.

doi: 10.1001/archneur.61.12.1842.

No abstract available

Comment on

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A. Dürr A, et al. Arch Neurol. 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867. Arch Neurol. 2004. PMID: 15596607

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.
Fusco C, Frattini D, Farnetti E, Nicoli D, Casali B, Fiorentino F, Nuccitelli A, Giustina ED. Fusco C, et al. Brain Dev. 2010 Aug;32(7):592-4. doi: 10.1016/j.braindev.2009.08.003. Epub 2009 Sep 6. Brain Dev. 2010. PMID: 19735987
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Sauter SM, et al. Hum Mutat. 2004 Jan;23(1):98. doi: 10.1002/humu.9205. Hum Mutat. 2004. PMID: 14695538
Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.
Al-Maawali A, Rolfs A, Klingenhaeger M, Yoon G. Al-Maawali A, et al. J Clin Neuromuscul Dis. 2011 Mar;12(3):143-6. doi: 10.1097/CND.0b013e318209efc6. J Clin Neuromuscul Dis. 2011. PMID: 21321493
Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia.
Rugarli EI, Langer T. Rugarli EI, et al. Trends Mol Med. 2006 Jun;12(6):262-9. doi: 10.1016/j.molmed.2006.04.002. Epub 2006 May 2. Trends Mol Med. 2006. PMID: 16647881 Review.
The hereditary spastic paraplegias: nine genes and counting.
Fink JK. Fink JK. Arch Neurol. 2003 Aug;60(8):1045-9. doi: 10.1001/archneur.60.8.1045. Arch Neurol. 2003. PMID: 12925358 Review.

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion.
Beetz C, Nygren AO, Deufel T, Reid E. Beetz C, et al. Neurogenetics. 2007 Nov;8(4):317-8. doi: 10.1007/s10048-007-0099-8. Epub 2007 Jul 27. Neurogenetics. 2007. PMID: 17657515 No abstract available.