کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3067765 | 1188168 | 2008 | 12 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
SummaryHereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affected neurons are those of the spinal cord. These disorders are characterised clinically by progressive spasticity and weakness of the lower limbs, and pathologically by retrograde axonal degeneration of the corticospinal tracts and posterior columns. In recent years, genetic studies have identified key cellular functions that are vital for the maintenance of axonal homoeostasis in HSP. Here, we describe the clinical and diagnostic features of the various forms of HSP. We also discuss the genes that have been identified and the emerging pathogenic mechanisms.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 7, Issue 12, December 2008, Pages 1127–1138
Journal: - Volume 7, Issue 12, December 2008, Pages 1127–1138
نویسندگان
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner,