SPG11 compound mutations in spastic paraparesis with thin corpus callosum

L. Samaranch, M. Riverol, J. C. Masdeu, E. Lorenzo, J. M. Vidal-Taboada, J. Irigoyen, M. A. Pastor, P. De Castro, P. Pastor

Research output: Contribution to journalArticle

27 Scopus citations

Abstract

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 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.

Original languageEnglish (US)
Pages (from-to)332-336
Number of pages5
JournalNeurology
Volume71
Issue number5
DOIs
StatePublished - Jul 29 2008

ASJC Scopus subject areas

  • Clinical Neurology

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