Literature DB >> 866862

[A new case of chronic progressive bulbo-pontine paralysis and deafness].

J E Van Laere.   

Abstract

The author reports a new case of chronic progressive bulbo-pontine paralysis with deafness. This case differed from other cases previously published on the basis of the later age of onset of labio-glosso-laryn-geal paralysis, by the absence of any vestibular changes despite bilateral involvement of the acoustic centres and above all by the normality of deep tendon reflexes. The author feels that chronic progressive vulvo-pontine paralysis with deafness is a specific individual condition, worthy of consideration as an autonomic clinical entity.

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Year:  1977        PMID: 866862

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN: 0035-3787            Impact factor:   2.607


  4 in total

1.  SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

Authors:  Atsushi Intoh; Naoki Suzuki; Kathryn Koszka; Kevin Eggan
Journal:  Hum Mol Genet       Date:  2016-03-13       Impact factor: 6.150

2.  Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Authors:  Federica Rizzo; Agnese Ramirez; Claudia Compagnucci; Sabrina Salani; Valentina Melzi; Andreina Bordoni; Francesco Fortunato; Alessia Niceforo; Nereo Bresolin; Giacomo P Comi; Enrico Bertini; Monica Nizzardo; Stefania Corti
Journal:  Sci Rep       Date:  2017-04-06       Impact factor: 4.379

3.  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 4.  Brown-Vialetto-Van Laere syndrome.

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

  4 in total

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