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Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation.

作者信息

Aridon P, Ragonese P, De Fusco M, Lo Coco D, Salemi G, Casari G, Savettieri G

机构信息

Human Molecular Genetics Unit, San Raffaele Scientific Institute, Milan, Italy.

出版信息

Neurol Sci. 2007 Aug;28(4):171-4. doi: 10.1007/s10072-007-0815-z. Epub 2007 Aug 10.

DOI:10.1007/s10072-007-0815-z
PMID:17690846
Abstract

We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C>T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced penetrance, indicating that other genetic or environmental factors are required to trigger full-blown disease.

摘要

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引用本文的文献

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本文引用的文献

1
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.意大利遗传性痉挛性截瘫患者中的新型痉挛蛋白（SPG4）突变
Neuromuscul Disord. 2006 Jun;16(6):387-90. doi: 10.1016/j.nmd.2006.03.009. Epub 2006 May 8.
2
Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.
Clin Neurol Neurosurg. 2006 Oct;108(7):692-8. doi: 10.1016/j.clineuro.2005.06.007. Epub 2005 Aug 15.
3
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.痉挛素突变在散发性痉挛性截瘫中很常见，其突变谱与家族性病例中观察到的不同。
J Med Genet. 2006 Mar;43(3):259-65. doi: 10.1136/jmg.2005.035311. Epub 2005 Jul 31.
4
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.常染色体显性遗传性痉挛性截瘫：基于变性高效液相色谱法的SPG4突变分析发现11种新突变。
Hum Mutat. 2005 May;25(5):506. doi: 10.1002/humu.9340.
5
Hereditary spastic paraplegia: clinical genetic study of 15 families.遗传性痉挛性截瘫：15个家系的临床遗传学研究
Arch Neurol. 2004 Jun;61(6):849-55. doi: 10.1001/archneur.61.6.849.
6
Advances in the hereditary spastic paraplegias.遗传性痉挛性截瘫的研究进展
Exp Neurol. 2003 Nov;184 Suppl 1:S106-10. doi: 10.1016/j.expneurol.2003.08.005.
7
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.痉挛素是一种在常染色体显性遗传性痉挛性截瘫中发生突变的蛋白质，它参与微管动力学过程。
Hum Mol Genet. 2002 Jan 15;11(2):153-63. doi: 10.1093/hmg/11.2.153.
8
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.与SPG4基因突变相关的遗传性痉挛性截瘫的家族内变异性。
Neurology. 2000 Sep 12;55(5):702-5. doi: 10.1212/wnl.55.5.702.
9
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.斯帕斯汀是一种新的AAA蛋白，在常染色体显性遗传性痉挛性截瘫的最常见形式中发生改变。
Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472.
10
The AAA team: related ATPases with diverse functions.AAA团队：具有多种功能的相关ATP酶。
Trends Cell Biol. 1998 Feb;8(2):65-71.