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. 2008 Apr 15;70(16 Pt 2):1384-9.
doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12.

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

C Paisan-Ruiz  1 , O Dogu, A Yilmaz, H Houlden, A Singleton
Affiliations

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

C Paisan-Ruiz et al. Neurology. .

Abstract

Background: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex hereditary spastic paraplegia. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases.

Methods: We present a complete analysis of the 40 coding exons of this gene in patients with sporadic (n = 25) or familial (20 probands) complex hereditary spastic paraplegia with and without thinning of the corpus callosum.

Results: We identified seven mutations, including deletions, insertions, and nonsense mutations, which were all predicted to lead to premature truncation of the protein.

Conclusion: We conclude that mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia but an infrequent cause of sporadic complex hereditary spastic paraplegia.

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References

    1. Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2006;6(1):65–76. - PubMed
    1. Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology. 1999;53(1):50–56. - PubMed
    1. Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, et al. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics. 2006;7(3):149–156. - PubMed
    1. Olmez A, Uyanik G, Ozgul RK, Gross C, Cirak S, Elibol B, et al. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum. Neuropediatrics. 2006;37(2):59–66. - PubMed
    1. Stevanin Giovanni, Santorelli Filippo M, Azzedine Hamid, Coutinho Paula, Chomilier Jacques, Denora Paola S, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007 - PubMed

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