Literature DB >> 7229669

Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome).

V Gallai, J M Hockaday, J T Hughes, D J Lane, D R Oppenheimer, G Rushworth.   

Abstract

The authors describe the clinical and electrophysiological features in 2 cases of ponto-bulbar palsy with deafness, and the clinical course and post-mortem findings in a sibling of one of these, who died in infancy, and who appears to have suffered from the same disease. The cases are compared with 17 previously published cases, and the disease is discussed in relation to other progressive neurological diseases of childhood.

Entities:  

Mesh：

Year:  1981        PMID： 7229669     DOI： 10.1016/0022-510x(81)90172-6

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  12 in total

1.  Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset.

Authors:  G Piccolo; E Marchioni; M Maurelli; F Simonetti; F Bizzetti; F Savoldi
Journal:  J Neurol       Date:  1992-07       Impact factor: 4.849

2.  Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation.

Authors:  Qalab Abbas; Sidra Kaleem Jafri; Sidra Ishaque; Arshalooz Jamila Rahman
Journal:  BMJ Case Rep       Date:  2018-06-27

3.  Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance.

Authors:  S A Hawkins; N C Nevin; A E Harding
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

4.  A Case with Brown-Vialetto-Van Laere Syndrome: A Sudden Onset Auditory Neuropathy Spectrum Disorder.

Authors:  Başak Mutlu; Merve Torun Topçu; Ayça Çiprut
Journal:  Turk Arch Otorhinolaryngol       Date:  2019-12-01

5.  Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van Laere syndrome or Madras-type motor neuron disease?

Authors:  B A Summers; M Swash; M S Schwartz; D A Ingram
Journal:  J Neurol       Date:  1987-08       Impact factor: 4.849

6.  Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Authors:  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
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

7.  Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings.

Authors:  Samira Yadegari; Askar Ghorbani; Mitra Ansari Dezfouli; Shahriar Nafissi
Journal:  Iran J Neurol       Date:  2011

8.  Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Authors:  Janel O Johnson; J Raphael Gibbs; Andre Megarbane; J Andoni Urtizberea; Dena G Hernandez; A Reghan Foley; Sampath Arepalli; Amelie Pandraud; Javier Simón-Sánchez; Peter Clayton; Mary M Reilly; Francesco Muntoni; Yevgeniya Abramzon; Henry Houlden; Andrew B Singleton
Journal:  Brain       Date:  2012-06-26       Impact factor: 13.501

Review 9.  The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

Authors:  Annet M Bosch; Kevin Stroek; Nico G Abeling; Hans R Waterham; Lodewijk Ijlst; Ronald J A Wanders
Journal:  Orphanet J Rare Dis       Date:  2012-10-29       Impact factor: 4.123

Review 10.  Brown-Vialetto-Van Laere syndrome.

Authors:  Sivakumar Sathasivam
Journal:  Orphanet J Rare Dis       Date:  2008-04-17       Impact factor: 4.123
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