کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9187401 | 1184488 | 2005 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
CPAPSMNNCSFVCamyotropic lateral sclerosis - اسکلروز جانبی جانبی آمیوتروپیکEMG - الکترومیوگرافیMRI - امآرآی یا تصویرسازی تشدید مغناطیسیALS - بیماری اسکلروز جانبی آمیوتروفیکMagnetic resonance imaging - تصویربرداری رزونانس مغناطیسیComputerised tomography - توموگرافی کامپیوتریdecibel - دسیبلforced vital capacity - ظرفیت حیاتی اجباریContinuous positive airway pressure - فشار جریان هوای همواره مثبتbulbar palsy - فلج بلبیرCSF - مایع مغزی نخاعیCerebrospinal fluid - مایع مغزی نخاعیnerve conduction studies - مطالعات هدایت عصبیdeafness - ناشنواییsurvival motor neuron - نورون موتور زنده ماندنHertz - هرتز
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease](/preview/png/9187401.png)
چکیده انگلیسی
We report four siblings showing features of a pontobulbar palsy, a mixed spinal and upper motor neuropathy and variable deafness. The observation of affected males and females born to consanguineous first cousin parents suggests autosomal recessive inheritance. Two children presented in the first 16 months of life with stridor and died of respiratory failure by the age of 2 years. Hearing loss was not apparent in these infants. In contrast, 2 further siblings developed a bulbar palsy in their sixth year followed by the onset of deafness and features of an anterior horn neuropathy with corticospinal tract involvement. They exhibited a relatively slow but relentless decline over a period of several years. These cases highlight the phenotypic overlap of Brown-Vialetto-Van Laere syndrome with Fazio-Londe disease. Rather than representing two separate disorders, our findings suggest the possibility of a single disease entity which may usefully be considered a form of juvenile amyotrophic lateral sclerosis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 27, Issue 6, September 2005, Pages 443-446
Journal: Brain and Development - Volume 27, Issue 6, September 2005, Pages 443-446
نویسندگان
Subrahmanian Dipti, Anne-Marie Childs, John H. Livingston, A.K. Aggarwal, Mike Miller, Chris Williams, Yanick J. Crow,