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ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
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SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
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The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
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Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
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Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
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本文引用的文献
1
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18.
2
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
Neuropediatrics. 2006 Apr;37(2):59-66. doi: 10.1055/s-2006-923982.
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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 Jul;7(3):149-56. doi: 10.1007/s10048-006-0044-2. Epub 2006 May 13.
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Hereditary spastic paraplegia.
Curr Neurol Neurosci Rep. 2006 Jan;6(1):65-76. doi: 10.1007/s11910-996-0011-1.
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Is the transportation highway the right road for hereditary spastic paraplegia?
Am J Hum Genet. 2002 Nov;71(5):1009-16. doi: 10.1086/344206. Epub 2002 Sep 24.
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Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
Neurology. 1999 Jul 13;53(1):50-6. doi: 10.1212/wnl.53.1.50.
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Classification of the hereditary ataxias and paraplegias.
Lancet. 1983 May 21;1(8334):1151-5. doi: 10.1016/s0140-6736(83)92879-9.
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