Document Detail

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
MedLine Citation:
PMID:  17322883     Owner:  NLM     Status:  MEDLINE    
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense or insertions and deletions leading to a frameshift, suggesting a loss-of-function mechanism. The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP.
Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne-Marie Ouvrard-Hernandez; Alessandra Tessa; Naïma Bouslam; Alexander Lossos; Perrine Charles; José L Loureiro; Nizar Elleuch; Christian Confavreux; Vítor T Cruz; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-02-18
Journal Detail:
Title:  Nature genetics     Volume:  39     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-02-27     Completed Date:  2007-06-20     Revised Date:  2011-11-24    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  366-72     Citation Subset:  IM    
INSERM, UMR679, Federal Institute for Neuroscience Research, Pitié-Salpêtrière Hospital, Paris, France.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/BAE27954; RefSeq/NM_025137;  XP_242139;  XP_413940;  XP_544657
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MeSH Terms
Age of Onset
Base Sequence
COS Cells
Cercopithecus aethiops
Cerebral Cortex / metabolism
Chromosomes, Human, Pair 15
Corpus Callosum / pathology*
DNA Mutational Analysis
Genetic Linkage
Lod Score
Molecular Sequence Data
Proteins / genetics*,  metabolism
Rats, Sprague-Dawley
Spastic Paraplegia, Hereditary / genetics*,  pathology*
Grant Support
Reg. No./Substance:
0/Proteins; 0/SPG11 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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