Abstract:
: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.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Brockmann K,Dechent P,Meins M,Haupt M,Sperner J,Stephani U,Frahm J,Hanefeld Fdoi
10.1007/s00415-003-0995-2keywords:
subject
Has Abstractpub_date
2003-03-01 00:00:00pages
300-6issue
3eissn
0340-5354issn
1432-1459journal_volume
250pub_type
杂志文章abstract:INTRODUCTION:Mal de Debarquement Syndrome (MdDS) is the rare condition of enduring rocking sensations and subjective unsteadiness following a lengthy exposure to passive motion. The pathogenesis of MdDS is unknown and the available treatment is limited. Here, we developed an experimental model of MdDS that may facilita...
journal_title:Journal of neurology
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journal_title:Journal of neurology
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更新日期:2011-10-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2018-10-01 00:00:00
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pub_type: 杂志文章
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313358
更新日期:1976-01-14 00:00:00
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pub_type: 杂志文章
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更新日期:2020-07-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-010-5861-4
更新日期:2011-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2021-01-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF03161079
更新日期:1999-09-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050326
更新日期:1999-03-01 00:00:00
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journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150170023
更新日期:2001-12-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-019-09385-y
更新日期:2020-12-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8234-9
更新日期:2016-10-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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更新日期:2018-11-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
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更新日期:2020-01-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
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更新日期:2008-08-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313346
更新日期:1980-01-01 00:00:00
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journal_title:Journal of neurology
pub_type: 杂志文章,评审
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pub_type: 杂志文章
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pub_type: 杂志文章,评审
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更新日期:2010-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:2005-06-01 00:00:00