کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8279141 | 1535128 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis](/preview/png/8279141.png)
چکیده انگلیسی
HDLS (Hereditary Diffuse Leukodystrophy with Spheroids) is a hereditary leukodystrophy whose main clinical manifestations include parkinsonism, spasticity, and ataxia. Genetic defects in the colony-stimulating factor 1 receptor (CSF1R) gene have been reported in many HDLS cases. The present report describes a new missense mutation Arg777Gln involving exon 18 of the CSF1R gene in a sporadic patient presenting with tumor-like lesions mimicking primary progressive multiple sclerosis. The patient was initially diagnosed with a progressive variant of multiple sclerosis and received inadequate treatments. Although most HDLS cases have a positive family history, this disease should also be suspected in sporadic patients showing unusual white matter lesions at MRI.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 334, Issues 1â2, 15 November 2013, Pages 192-195
Journal: Journal of the Neurological Sciences - Volume 334, Issues 1â2, 15 November 2013, Pages 192-195
نویسندگان
Toshio Inui, Toshitaka Kawarai, Koji Fujita, Kazuyuki Kawamura, Takao Mitsui, Antonio Orlacchio, Masaki Kamada, Takashi Abe, Yuishin Izumi, Ryuji Kaji,