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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

White and grey matter abnormalities in patients with SPG11 mutations

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Franca, Jr., Marcondes C. [1, 2] ; Yasuda, Clarissa L. [1, 2] ; Pereira, Fabricio R. S. [1, 2] ; D'Abreu, Anelyssa [1, 2] ; Lopes-Ramos, Camila M. [3] ; Rosa, Madalena V. [3] ; Cendes, Fernando [1, 2] ; Lopes-Cendes, Iscia [3]
Número total de Autores: 8
Afiliação do(s) autor(es):
[1] Univ Campinase UNICAMP, Dept Neurol, Fac Med, Sao Paulo - Brazil
[2] Univ Campinase UNICAMP, Neuroimaging Lab, Fac Med, Sao Paulo - Brazil
[3] Univ Campinase UNICAMP, Dept Med Genet, Fac Med, Sao Paulo - Brazil
Número total de Afiliações: 3
Tipo de documento: Artigo Científico
Citações Web of Science: 19

Background Mutations in SPG11 are the most frequent known cause of autosomal recessive hereditary spastic paraplegia. Corpus callosum thinning is a hallmark of the condition but little is known about damage to other structures in the CNS. Objective To evaluate in vivo cerebral damage in patients with SPG11 mutations. Methods 5 patients and 15 age and sex matched healthy controls underwent high resolution diffusion tensor imaging (32 directions) and a T1 volumetric (1 mm slices) acquisition protocol in a 3 T scanner (Philips Achieva). These sequences were then analysed through voxel based morphometry (VBM) and tract based spatial statistics (TBSS). Results Mean age of the patients was 23.6 +/- 4.5 years (range 14-45) and mean duration of disease was 12 years (range 5-15). All patients presented with progressive spastic paraplegia and three were already wheelchair bound when first evaluated. Mutations found were: c.529\_533delATATT, c.704\_705delAT, c.733\_734delAT, c.118C>T and c.7256A>G. VBM identified significant grey matter atrophy in both the thalamus and lentiform nuclei. TBSS analyses revealed reduced fractional anisotropy involving symmetrically subcortical white matter of the temporal and frontal lobes, the cingulated gyrus, cuneus, striatum, corpus callosum and brainstem. Conclusions Widespread white matter damage in patients with SPG11 mutations has been demonstrated. Grey matter atrophy was prominent in both the thalamus and basal ganglia but not in the cerebral cortex. These findings suggest that neuronal damage/dysfunction is more widespread than previously recognised in this condition. (AU)

Processo FAPESP: 08/58605-7 - Estudo molecular e de correlação genótipo-fenótipo nas paraparesias espásticas
Beneficiário:Marcondes Cavalcante Franca Junior
Linha de fomento: Bolsas no Brasil - Pós-Doutorado