Abstract:
:Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included magnetic resonance imaging (MRI) of the brain which showed extensive frontotemporal leukoencephalopathy. A subsequent brain biopsy showed demyelination and perivascular macrophages. Further workup included serum very long chain fatty acid concentration (VLCFA), which was found to be elevated. An MRI of the total spine showed diffuse atrophy, but no intrinsic cord signal changes, and the diagnosis of AOCALD was established. Genomic sequencing revealed a nonsense mutation in exon 8 (2188G-->A, W601X), to our knowledge not reported in context with AOCALD. A family pedigree was obtained, and other family members at risk were identified and underwent genetic counseling. In conclusion, AOCALD is an important differential diagnosis in adults presenting with cognitive decline. While treatment for affected patients is often supportive only, molecular diagnosis serves as a basis for genetic counseling, identification of relatives at risk and timely referral to a treatment program.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Dohle CI,Bannykh SI,Hisama FM,Baehring JMdoi
10.1016/j.jns.2009.06.012subject
Has Abstractpub_date
2009-10-15 00:00:00pages
235-7issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(09)00641-8journal_volume
285pub_type
杂志文章abstract::A boy, who had shown muscle weakness and hypotonia from early childhood and fiber type disproportion (FTD) with no dystrophic changes on muscle biopsy, was initially diagnosed as having congenital fiber type disproportion (CFTD). Subsequently, he developed cardiac conduction blocks. We reconsidered the diagnosis as po...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:2014-05-15 00:00:00
abstract:BACKGROUND:MS relapses are unpredictable and can be concerning to patients and their caregivers. OBJECTIVE:To assess the direct and indirect cost burden associated with relapses of different severities in MS patients and with MS relapse frequency on spouse caregivers. METHODS:Using a U.S. insurance claims and employe...
journal_title:Journal of the neurological sciences
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更新日期:2014-12-15 00:00:00
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journal_title:Journal of the neurological sciences
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doi:10.1016/0022-510x(78)90127-2
更新日期:1978-12-01 00:00:00
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2005.10.017
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90243-7
更新日期:1994-08-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(02)00057-6
更新日期:2002-06-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.jns.2014.07.023
更新日期:2014-10-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(85)90022-x
更新日期:1985-01-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1976-11-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2004.02.011
更新日期:2004-05-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.06.031
更新日期:2013-09-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
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pub_type: 杂志文章,多中心研究
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journal_title:Journal of the neurological sciences
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1991-06-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:2015-09-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:2009-12-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.06.041
更新日期:2014-09-15 00:00:00
abstract::Intravascular lymphoma (IVL) is a rare disorder characterized by the aggregation of malignant large cell lymphoma cells in small vessels. Neurological manifestations are typically the initial and, often the only, clinically obvious consequences of this malignancy. Diagnosis is dependent on biopsy or postmortem demonst...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2005.01.001
更新日期:2005-05-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.10.029
更新日期:2008-05-15 00:00:00