Neurology · 2008
SPG11 compound mutations in spastic paraparesis with thin corpus callosum.
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Samaranch L, Riverol M, Masdeu J C, Lorenzo E, Vidal-Taboada J M, Irigoyen J, Pastor M A, de Castro P, Pastor P
Аннотация
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.
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.
Предметные рубрики MeSH
AdultAgenesis of Corpus CallosumChildChromosome DisordersChromosomes, Human, Pair 15Corpus CallosumDNA Mutational AnalysisEnergy MetabolismFrontal LobeGene FrequencyGenes, RecessiveGenetic MarkersGenetic Predisposition to DiseaseGenetic TestingGenotypeHumansIntellectual DisabilityMutationNervous System MalformationsParaparesis, SpasticProteinsRadionuclide ImagingSpainSyndromeThalamus