Scientific publications 

SPG11 compound mutations in spastic paraparesis with thin corpus callosum

L. Samaranch, PhD, M. Riverol [SP], MD, J. C. Masdeu, MD, PhD, E. Lorenzo, BSc, J. M. Vidal-Taboada, PhD, J. Irigoyen, MSN, RN, M. A. Pastor [SP], MD, PhD, P. de Castro, MD, PhD and P. Pastor, MD, PhD
From the Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research (L.S., E.L., J.M.V.-T., J.I., P.P.), and Department of Neurology, Clínica Universitaria de Navarra (M.R., J.C.M., J.I., M.A.P., P.d.C., P.P.), University of Navarra, Pamplona, Spain.

Magazine: Neurology

Date: Jul 29, 2008

Neurology [SP]

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.

As an independent group, we investigated SPG11 gene involvement in four individuals not previously described with either recessive or sporadic HSP-TCC presentation.

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.

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

you maybe interested


The Clínica is the greater private hospital with technological equipment of Spain, all in a single center.

Imagen de un PET, tecnología de vanguardia en la Clínica Universidad de Navarra


The professionals of the Clínica perform continuous research and training, always to the benefit of the patient.

Imagen profesionales de la Clínica Universidad de Navarra


Learn why we are different from other healthcare centers. Quality, speed, comfort and results.

Imagen del edificio de la Clínica Universidad de Navarra