نتایج جستجو برای: van laere

تعداد نتایج: 71369  

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 1991

Journal: :genetics in the 3rd millennium 0
سمیرا یادگاری samira yadegari department of neurology, shariati hospital, tehran university of medical sciences, tehran, iran شهریار نفیسی shahriar nafissi

brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder of unknown etiology considered to be a form of motor neuron diseases. this syndrome is characterized by bilateral deafness and involvement of lower cranial nerves, especially 7th-12th. umn signs are less frequent. until 2007, only fifty eight cases were reported. half of the reported cases were sporadic. in the remaining ...

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...

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