کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10957716 | 1099611 | 2015 | 18 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیولوژی سلول
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چکیده انگلیسی
Mutations in the DARS2 gene are known to cause leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), a rare autosomal recessive neurological disorder. It was originally described as juvenile-onset slowly progressive ataxia and spasticity, but recent reports suggest a broader clinical spectrum. Most patients were found to carry compound heterozygous DARS2 mutations, and only very few patients with homozygous mutations have been described so far. We present here an 8-month-old boy carrying a homozygous missense mutation in DARS2 who clinically showed severe neurological deterioration after a respiratory tract infection, followed by an almost complete remission of symptoms. This report further extends the knowledge about the clinical and molecular genetic spectrum of LBSL.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular and Cellular Probes - Volume 29, Issue 5, October 2015, Pages 319-322
Journal: Molecular and Cellular Probes - Volume 29, Issue 5, October 2015, Pages 319-322
نویسندگان
Cornelia Köhler, Christoph Heyer, Sabine Hoffjan, Susanne Stemmler, Thomas Lücke, Charlotte Thiels, Alfried Kohlschütter, Ulrike Löbel, Rita Horvath, Stephanie Kleinle, Anna Benet-Pages, Angela Abicht,