نتایج جستجو برای: progressive pontobulbar palsy

تعداد نتایج: 140552  

Journal: :iranian journal of neurology 0
samira yadegari m.d, department of neurology, tehran university of medical sciences, tehran, iran. askar ghorbani m.d, department of neurology, tehran university of medical sciences, tehran, iran mitra ansari dezfouli school of biology, university college of science, university of tehran, tehran, iran shahriar nafissi m.d, department of neurology, tehran university of medical sciences, tehran, iran

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...

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...

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: :Equilibrium Research 2023

Progressive supranuclear palsy (PSP) has been reported as a disorder mainly characterized by tendency to fall, vertical gaze palsy, and constriction of the body axis, akinesia, cognitive impairment. Patients presenting with these typical clinical features are diagnosed having PSP-Richardson syndrome (PSP-RS). Electronystagmography (ENG) is useful for detection ocular motility disorder, which ma...

Journal: :Brain : a journal of neurology 2010
Stéphane Lehéricy Andreas Hartmann Annie Lannuzel Damien Galanaud Christine Delmaire Marie-Josée Bienaimée Nicolas Jodoin Emmanuel Roze Bertrand Gaymard Marie Vidailhet

In the Caribbean island of Guadeloupe, patients with atypical parkinsonism develop a progressive supranuclear palsy-like syndrome, named Guadeloupean parkinsonism. Unlike the classical forms of progressive supranuclear palsy, they develop hallucinations and myoclonus. As lesions associated with Guadeloupean parkinsonism are poorly characterized, it is not known to what extent they differ from p...

Journal: :Orphanet Journal of Rare Diseases 2008
Sivakumar Sathasivam

The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with s...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1984
A Brusa F Claudiani S Meneghini P Mombelloni A Piccardo

Three cases of progressive supranuclear palsy are reported in which In111-DTPA cisternography showed slow diffusion, ventricular reflux and failure of isotope clearance. The clinical diagnosis of progressive supranuclear palsy was confirmed histologically in two of these patients. The possible causes of the cisternographic changes and their relationship to the changes of CSF dynamics in progres...

Journal: :Archives of Neurology 2001

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