TY - JOUR
T1 - Grey matter density decreases as well as increases in patients with classic galactosemia
T2 - a voxel-based morphometry study
AU - Timmers, Inge
AU - van der Korput, Lisanne D
AU - Jansma, Bernadette M
AU - Rubio Gozalbo, Estela
N1 - Copyright © 2016. Published by Elsevier B.V.
PY - 2016/10/1
Y1 - 2016/10/1
N2 - Brain impairments have been observed in patients with classic galactosemia, an inherited metabolic disorder resulting in a particular neuro-cognitive profile. Neuroimaging studies showed abnormalities such as diffuse white mater (WM) abnormalities and grey matter (GM) atrophy. Our current study analysed grey matter density using voxel-based morphometry (VBM) and compared the brains of eight adolescent patients with classic galactosemia with eight healthy gender- and aged-matched controls. GM density differences were found in several regions. Decreased GM density was found in the patients in the bilateral putamen and bilateral occipital cortex. Increased GM density in the patients, on the other hand, was found in the bilateral inferior frontal and medial prefrontal cortex. The anatomical profile of the abnormalities is in line with the neuro-cognitive profile of patients with classic galactosemia, including motor dysfunction, speech and language difficulties and higher order cognitive problems. Less favourable GM densities in patients (either increased or decreased compared to controls) correlated with younger age, a worse visual working memory performance, and an older age at initiation of the galactose-restricted diet. To conclude, this explorative study is the first to analyse the GM using VBM in this population, and demonstrates a mixed profile of both increased and decreased GM density in these patients.
AB - Brain impairments have been observed in patients with classic galactosemia, an inherited metabolic disorder resulting in a particular neuro-cognitive profile. Neuroimaging studies showed abnormalities such as diffuse white mater (WM) abnormalities and grey matter (GM) atrophy. Our current study analysed grey matter density using voxel-based morphometry (VBM) and compared the brains of eight adolescent patients with classic galactosemia with eight healthy gender- and aged-matched controls. GM density differences were found in several regions. Decreased GM density was found in the patients in the bilateral putamen and bilateral occipital cortex. Increased GM density in the patients, on the other hand, was found in the bilateral inferior frontal and medial prefrontal cortex. The anatomical profile of the abnormalities is in line with the neuro-cognitive profile of patients with classic galactosemia, including motor dysfunction, speech and language difficulties and higher order cognitive problems. Less favourable GM densities in patients (either increased or decreased compared to controls) correlated with younger age, a worse visual working memory performance, and an older age at initiation of the galactose-restricted diet. To conclude, this explorative study is the first to analyse the GM using VBM in this population, and demonstrates a mixed profile of both increased and decreased GM density in these patients.
KW - Classic galactosemia
KW - GALT
KW - Neuroimaging
KW - Grey matter
KW - Voxel-based morphometry
KW - BRAIN
KW - CHILDREN
KW - DISORDERS
KW - LANGUAGE
KW - FMRI
U2 - 10.1016/j.brainres.2016.08.005
DO - 10.1016/j.brainres.2016.08.005
M3 - Article
C2 - 27502028
SN - 0006-8993
VL - 1648
SP - 339
EP - 344
JO - Brain Research
JF - Brain Research
IS - Part A
ER -