ArticleArquivos de neuro-psiquiatria2023
Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.
Article in Arquivos de neuro-psiquiatria, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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7 authors at 1 institution in 1 country.
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Abstract
backgroundSjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (
objectiveWe performed a volumetric analysis of the brain of two siblings with SLS with the aim of detecting deep grey matter nuclei, cerebellar grey matter, and brainstem volume reduction in these patients.
methodsVolume data obtained from the brain magnetic resonance imaging (MRI) of the two patients using an automated segmentation software (Freesurfer) was compared with the volumes of a healthy control group.
resultsStatistically significant volume reduction was found in the cerebellum cortex, the brainstem, the thalamus, and the pallidum nuclei.
conclusionVolume reduction in grey matter leads to the hypothesis that SLS is not a pure leukoencephalopathy. Grey matter structures affected in the present study suggest a dysfunction more prominent in the thalamic motor pathways.
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