نتایج جستجو برای: van laere syndrome

تعداد نتایج: 686720  

Journal: :American journal of human genetics 2010
Peter Green Matthew Wiseman Yanick J Crow Henry Houlden Shelley Riphagen Jean-Pierre Lin F Lucy Raymond Anne-Marie Childs Eamonn Sheridan Sian Edwards Dragana J Josifova

Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified ...

ژورنال: :طب جنوب 0
شهریار نفیسی shahryar nafisi سمیرا یادگاری samira yadegary تهران، خیابان کارگرشمالی، بیمارستان شریعتی هومان سلیمی پور hooman salimipour رزیتا نائینی rozita naieni

زمینه: سندرم brown-vialetto-van laere یکی از بیماری های تحلیل برنده نورولوژیک است که جزء اختلالات نورون حرکتی طبقه‎بندی می شود. این سندرم به لحاظ اپیدمیولوژیک نادر بوده اما در مناطق مختلف دنیا گزارش شده است. تظاهر بیماری اغلب به صورت کاهش شنوایی دوطرفه و فلج پیشرونده پونتوبولبر است. درگیری بخش موتور اعصاب کرانیال تحتانی نیز دیده می شود. تشخیص بر اساس یافته های بالینی و الکتروفیزیولوژی و رد نمود...

2017
James A Bashford Fahmida A Chowdhury Chris E Shaw

The clinical diagnosis of Brown-Vialetto-Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. DNA sequ...

Journal: :Neurosciences 2012
Samira Yadegari Keyvan Razmjoo Shahriar Nafissi

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare type of motor neuron disease, characterized by bilateral deafness, and multiple cranial nerve involvement. The disease is more frequent in females, but rapid deterioration was attributed to male gender or early onset. Herein, we report a man with BVVLS who had a longer than expected interval between onset of deafness and other motor symptoms t...

2011
Samira Yadegari Askar Ghorbani Mitra Ansari Dezfouli Shahriar Nafissi

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder. We report our finding about four patients clinically and electrophysiologically diagnosed as BVVLS and denoted their clinical features with comparison to previous reports. The first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. Our patients represented som...

2014
A. Reghan Foley Manoj P. Menezes Amelie Pandraud Michael A. Gonzalez Ahmad Al-Odaib Alexander J. Abrams Kumiko Sugano Atsushi Yonezawa Adnan Y. Manzur Joshua Burns Imelda Hughes B. Gary McCullagh Heinz Jungbluth Ming J. Lim Jean-Pierre Lin Andre Megarbane J. Andoni Urtizberea Ayaz H. Shah Jayne Antony Richard Webster Alexander Broomfield Joanne Ng Ann A. Mathew James J. O’Byrne Eva Forman Mariacristina Scoto Manish Prasad Katherine O’Brien Simon Olpin Marcus Oppenheim Iain Hargreaves John M. Land Min X. Wang Kevin Carpenter Rita Horvath Volker Straub Monkol Lek Wendy Gold Michael O. Farrell Sebastian Brandner Rahul Phadke Kazuo Matsubara Michael L. McGarvey Steven S. Scherer Peter S. Baxter Mary D. King Peter Clayton Shamima Rahman Mary M. Reilly Robert A. Ouvrier John Christodoulou Stephan Züchner Francesco Muntoni Henry Houlden

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative...

Journal: :Cortex; a journal devoted to the study of the nervous system and behavior 2012
Jan Van den Stock Beatrice de Gelder François-Laurent De Winter Koen Van Laere Mathieu Vandenbulcke

Jan Van den Stock *, Beatrice de Gelder , François-Laurent De Winter , Koen Van Laere d and Mathieu Vandenbulcke a Brain and Emotion Laboratory Leuven (BELL), Division of Psychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium Tilburg University, Cognitive and Affective Neuroscience Laboratory, Tilburg, The Netherlands Athinoula A. Martinos Centre for Biomedical Imaging, Massachuset...

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