Scientific publications
SPG11 compound mutations in spastic paraparesis with thin corpus callosum. Scientific Publication
L. Samaranch, PhD, M. Riverol, MD, J. C. Masdeu, MD, PhD, E. Lorenzo, BSc, J. M. Vidal-Taboada, PhD, J. Irigoyen, MSN, RN, M. A. Pastor, MD, PhD, P. de Castro, MD, PhD and P. Pastor, MD, PhD
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.
CITATION Neurology. 2008 Jul 29;71(5):332-6
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