Document Detail

White and grey matter abnormalities in patients with SPG11 mutations.
MedLine Citation:
PMID:  22696581     Owner:  NLM     Status:  Publisher    
BackgroundMutations 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.ObjectiveTo evaluate in vivo cerebral damage in patients with SPG11 mutations.Methods5 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).ResultsMean 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.ConclusionsWidespread 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.
Marcondes C França; Clarissa L Yasuda; Fabrício R S Pereira; Anelyssa D'Abreu; Camila M Lopes-Ramos; Madalena V Rosa; Fernando Cendes; Iscia Lopes-Cendes
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-6-13
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  -     ISSN:  1468-330X     ISO Abbreviation:  -     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-6-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Neurology and Neuroimaging Laboratory, Faculty of Medicine, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.
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