Abstract:
:Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the same haplotype suggesting a Spanish founder mutation. Both the Q163X and the R120Q mutation cause demyelination and axonal loss. The patients had symptoms within the first two years of life and involvement of cranial, sensory, and enteric nerves. Neuropathology showed loss of large myelinated fibers, onion bulb formations and focal folding of the outer myelin lamina.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Boerkoel CF,Takashima H,Nakagawa M,Izumo S,Armstrong D,Butler I,Mancias P,Papasozomenos SC,Stern LZ,Lupski JRdoi
10.1002/ana.10505keywords:
subject
Has Abstractpub_date
2003-03-01 00:00:00pages
400-5issue
3eissn
0364-5134issn
1531-8249journal_volume
53pub_type
杂志文章abstract::A sensitive enzyme-linked immunosorbent assay method was employed to measure interleukin-2 (IL-2) levels in cerebrospinal fluid (CSF) and sera from 30 patients with multiple sclerosis (MS) and 8 patients with other neurological diseases. Detectable levels of IL-2 were found in 6 sera and 9 CSF samples of 21 patients w...
journal_title:Annals of neurology
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pub_type: 临床试验,杂志文章
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pub_type: 临床试验,杂志文章
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pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章,meta分析
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24171
更新日期:2014-06-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-05-01 00:00:00
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journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
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更新日期:1997-01-01 00:00:00
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pub_type: 杂志文章
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:1981-12-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-06-01 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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更新日期:1998-04-01 00:00:00
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更新日期:1997-02-01 00:00:00