Brown-Vialetto-Van Laere syndrome.

Orphanet Journal of Rare Diseases
Sivakumar Sathasivam

Abstract

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 sensorineural deafness, which is usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common neurological features. Other features include respiratory compromise (the most frequent non-neurological finding), limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epilepsy may occur. The etiopathogenesis of the condition remains elusive. Approximately 50% of cases are familial, of which autosomal recessive is suggested. The remaining cases are sporadic. The diagnosis is usually based on the clinical presentation. Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination) are done to exclude other ...Continue Reading

References

Nov 1, 1975·Clinical Genetics·C W CremersT J Van Rens
Dec 1, 1992·Brain : a Journal of Neurology·M A McShaneJ Wilson
Aug 1, 1991·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·J M AbarbanelK R Chapman
May 1, 1981·Journal of the Neurological Sciences·V GallaiG Rushworth
Apr 1, 1980·Archives of Neurology·R AlbercaG Miranda-Nieves
Feb 1, 1993·Neuropathology and Applied Neurobiology·D A FrancisL W Duchen
Dec 1, 1995·Arquivos de neuro-psiquiatria·J T De OliveiraF O Perpétuo
Jul 24, 2001·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·S SathasivamP J Shaw
Nov 13, 2002·Brain & Development·Konstantinos A VoudrisEleni A Vagiakou
May 15, 2003·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·A Filiz KoçYakup Sarica
May 29, 2004·Pediatric Neurology·Rajesh RamachandranNairAnanthanarayanan Seethammal Girija
Jul 5, 2005·The Journal of Laryngology and Otology·H V Prabhu, M J K Brown
Sep 12, 2006·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Alexis DescathaDominique Fletcher
Oct 3, 2006·Journal of the Neurological Sciences·A NaliniR Gope
Nov 10, 2006·Journal of Child Neurology·Roshan KoulAlexander Chacko
Apr 11, 2007·Arquivos de neuro-psiquiatria·José Augusto MalheirosFrancisco E C Cardoso
Mar 22, 2008·BMJ : British Medical Journal·Christopher J McDermott, Pamela J Shaw
Oct 8, 2009·Paediatric Anaesthesia·David Fell
Sep 1, 1994·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·R J Davenport, C J Mumford

❮ Previous
Next ❯

Citations

Aug 7, 2012·Journal of Inherited Metabolic Disease·Tobias B HaackHolger Prokisch
Jun 22, 2012·Journal of Human Genetics·Mitra Ansari DezfouliElahe Elahi
Jun 29, 2012·Brain : a Journal of Neurology·Janel O JohnsonAndrew B Singleton
May 22, 2013·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Patrick MalafronteKimmo J Hatanpaa
Nov 21, 2013·Brain : a Journal of Neurology·A Reghan FoleyHenry Houlden
Aug 28, 2014·Current Opinion in Neurology·Andreea ManoleHenry Houlden
Jun 28, 2014·Brain : a Journal of Neurology·Kristien PeetersAlbena Jordanova
Dec 17, 2009·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Fathi O DakhilMohammad H Zew
Oct 2, 2013·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·Monica Bandettini Di PoggioAngelo Schenone
Jul 25, 2012·Neuromuscular Disorders : NMD·Marianna CiccolellaEnrico Bertini
Jan 26, 2012·Molecular Genetics and Metabolism·Svetlana M NabokinaHamid M Said
Jun 21, 2015·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Manoj P MenezesSteve Vucic
Nov 9, 2010·Journal of the Neurological Sciences·Francisco Pereira da Silva-JúniorLuiz Henrique Martins Castro
Oct 8, 2009·Paediatric Anaesthesia·David Fell
Sep 14, 2012·Journal of the Peripheral Nervous System : JPNS·Eppie M Yiu, Monique M Ryan
Nov 22, 2011·Developmental Medicine and Child Neurology·Geetha AnandSandeep Jayawant
Mar 26, 2015·Nature Genetics·Daniel F GudbjartssonKari Stefansson
Oct 6, 2010·American Journal of Human Genetics·Janel O JohnsonAndrew B Singleton
May 11, 2016·Journal of Neurology·Elena GargaunTeresa Gidaro
Jun 9, 2016·Scientific Reports·Hiroki YoshimatsuKazuo Matsubara
Feb 27, 2016·Developmental Medicine and Child Neurology·Manoj P MenezesKirsty Gardner-Berry
May 6, 2017·Journal of Clinical Medicine·Tamilarasan UdhayabanuBalasubramaniem Ashokkumar
Oct 21, 2017·Brain : a Journal of Neurology·Andreea ManoleHenry Houlden
Nov 23, 2013·American Journal of Physiology. Gastrointestinal and Liver Physiology·Hiroki YoshimatsuKazuo Matsubara
Dec 24, 2019·Journal of Child Neurology·Fatima AmirMargaret Kettler
Sep 11, 2020·American Journal of Medical Genetics. Part a·Nishitha R PillaiFernando Scaglia
Jun 6, 2017·Human Genome Variation·Mohammad Arif HossainWafaa Eyaid
Jan 23, 2016·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Alex Man Lai WuShinya Ito
Mar 11, 2017·Internal and Emergency Medicine·Josef Finsterer, Claudia Stöllberger
Dec 17, 2020·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Santhalingam GayathriBalasubramaniem Ashokkumar
Oct 8, 2020·Journal of Lipid and Atherosclerosis·Ronald J A WandersRiekelt H Houtkooper
Apr 8, 2021·Neuromuscular Disorders : NMD·Marzieh KhaniElahe Elahi
Apr 23, 2021·Clinical Drug Investigation·Domenico PlantoneGiuseppe Rinaldi
Sep 10, 2021·The Journal of Laryngology and Otology·R OmarW Pagarkar

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
biopsies

Software Mentioned

BVVL

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Amyloid Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.