title: Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study.
abstract: 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.
authors: Department of Cognitive Neuroscience, Maastricht University, PO Box 616, 6200 MD Maastricht, The Netherlands; Maastricht Brain Imaging Center (M-BIC), PO Box 616, 6200 MD Maastricht, The Netherlands. Electronic address: inge.timmers@maastrichtuniversity.nl.
authors: Inge
authors: I
authors: Timmers
authors: Department of Pediatrics, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands.
authors: Lisanne D
authors: LD
authors: van der Korput
authors: Department of Cognitive Neuroscience, Maastricht University, PO Box 616, 6200 MD Maastricht, The Netherlands; Maastricht Brain Imaging Center (M-BIC), PO Box 616, 6200 MD Maastricht, The Netherlands.
authors: Bernadette M
authors: BM
authors: Jansma
authors: Department of Pediatrics, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands; Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands.
authors: M Estela
authors: ME
authors: Rubio-Gozalbo
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D005693:Galactosemias / Q000000981:diagnostic imaging / Q000473:pathology*; D066128:Gray Matter / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D055815:Young Adult
keywords: Classic galactosemia; GALT; Grey matter; Neuroimaging; Voxel-based morphometry