Document Detail


SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
MedLine Citation:
PMID:  18337587     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
C Paisan-Ruiz; O Dogu; A Yilmaz; H Houlden; A Singleton
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't     Date:  2008-03-12
Journal Detail:
Title:  Neurology     Volume:  70     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2008 Apr 
Date Detail:
Created Date:  2008-04-16     Completed Date:  2008-05-07     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1384-9     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Corpus Callosum / pathology,  physiology
Female
Genes, Recessive / genetics*
Genetic Linkage / genetics
Humans
Male
Mutation / genetics*
Pedigree*
Proteins / genetics*
Spastic Paraplegia, Hereditary / diagnosis*,  genetics*,  pathology
Grant Support
ID/Acronym/Agency:
G108/638//Medical Research Council; Z01 AG000957-05/AG/NIA NIH HHS; //Medical Research Council
Chemical
Reg. No./Substance:
0/Proteins; 0/SPG11 protein, human
Comments/Corrections
Comment In:
Neurology. 2008 Apr 15;70(16 Pt 2):1375-6   [PMID:  18413565 ]

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