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          Institute: MPI für biophysikalische Chemie     Collection: Biomedizinische NMR ForschungsGmbH (Prof. Jens Frahm)     Display Documents



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ID: 20739.0, MPI für biophysikalische Chemie / Biomedizinische NMR ForschungsGmbH (Prof. Jens Frahm)
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease
Authors:Brockmann, K.; Dechent, P.; Meins, M.; Haupt, M.; Sperner, J.; Stephani, U.; Frahm, J.; Hanefeld, F.
Language:English
Date of Publication (YYYY-MM-DD):2003-03
Title of Journal:Journal of Neurology
Volume:250
Issue / Number:3
Start Page:300
End Page:306
Review Status:Peer-review
Audience:Not Specified
Abstract / Description:Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations in the gene encoding glial fibrillary acidic protein (GFAP) have been demonstrated to be associated with AD. We used localized proton magnetic resonance spectroscopy (MRS) to assess metabolic abnormalities in grey and white matter, basal ganglia, and cerebellum of 4 patients with infantile AD and GFAP mutations. Strongly elevated concentrations of myo- inositol in conjunction with normal or increased choline- containing compounds in all regions investigated point to astrocytosis and demyelination. Neuroaxonal degeneration, as reflected by a reduction of N-acetylaspartate, was most pronounced in cerebral and cerebellar white matter. The accumulation of lactate in affected white matter is in line with infiltrating macrophages. Metabolic alterations demonstrated by in vivo proton MRS are in excellent agreement with known neuropathological features of AD.
Free Keywords:astrocytosis; demyelination; leukodystrophy; quantitative proton MR spectroscopy
Comment of the Author/Creator:Date: 2003, MAR
External Publication Status:published
Document Type:Article
Communicated by:N. N.
Affiliations:MPI für biophysikalische Chemie/AG Jens Frahm
External Affiliations:Childrens Hosp, Dept Pediat & Neuropaediat, Robert Koch Str; 40, D-37075 Gottingen, Germany; Childrens Hosp, Dept Pediat & Neuropaediat, D-37075 Gottingen, Germany; Univ Gottingen, Dept Human Genet, D-3400 Gottingen, Germany; Childrens Hosp, Erfurt, Germany
Identifiers:URL:http://springerlink.metapress.com/content/71qahag2...
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