Document Detail

SPG11 compound mutations in spastic paraparesis with thin corpus callosum.
MedLine Citation:
PMID:  18663179     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Autosomal recessive hereditary spastic paraparesis with thin corpus callosum (ARHSP-TCC) is being increasingly recognized as a variety of spastic paraplegia with mental retardation. SPG11 gene mutations have been reported to be associated with ARHSP-TCC. METHODS: As an independent group, we investigated SPG11 gene involvement in four individuals not previously described with either recessive or sporadic HSP-TCC presentation. RESULTS: Chromosome 15q13-15 segregating autosomal disease haplotypes were different across the kindreds and sequencing of SPG11 identified four novel frameshift/nonsense segregating mutations and the R2034X mutation, which were in heterozygous compound status. The affected examined had decreased thalamic and bilateral paracentral frontal lobe metabolism on (18)F-flurodeoxyglucose PET. CONCLUSIONS: Loss-of-function SPG11 mutations are the major cause of autosomal recessive hereditary spastic paraparesis with thin corpus callosum in Southern Europe, even in apparently sporadic cases. Decreased thalamic metabolism was consistently a phenotypical SPG11 mutation hallmark.
L Samaranch; M Riverol; J C Masdeu; E Lorenzo; J M Vidal-Taboada; J Irigoyen; M A Pastor; P de Castro; P Pastor
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neurology     Volume:  71     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-07-29     Completed Date:  2008-08-26     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  332-6     Citation Subset:  AIM; IM    
Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), Pío XII 55, 31008-Pamplona (Navarra), Spain.
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MeSH Terms
Chromosome Disorders / genetics
Chromosomes, Human, Pair 15 / genetics
Corpus Callosum / abnormalities*,  metabolism,  radionuclide imaging
DNA Mutational Analysis
Energy Metabolism / genetics
Frontal Lobe / metabolism,  physiopathology,  radionuclide imaging
Gene Frequency
Genes, Recessive / genetics
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics*
Genetic Testing
Mental Retardation / complications,  genetics,  physiopathology
Mutation / genetics*
Nervous System Malformations / complications,  genetics*,  radionuclide imaging
Paraparesis, Spastic / complications,  genetics*,  radionuclide imaging
Proteins / genetics*
Thalamus / metabolism*,  physiopathology,  radionuclide imaging
Reg. No./Substance:
0/Genetic Markers; 0/Proteins; 0/SPG11 protein, human

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

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