Literature DB >> 17420823

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance.

José Augusto Malheiros1, Sarah Teixeira Camargos, José Teotonio de Oliveira, Francisco E C Cardoso.   

Abstract

We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.

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Year:  2007        PMID： 17420823     DOI： 10.1590/s0004-282x2007000100008

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN： 0004-282X            Impact factor:   1.420


  4 in total

1.  Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Authors:  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
Journal:  Brain       Date:  2013-11-19       Impact factor: 13.501

Review 2.  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 3.  Brown-Vialetto-Van Laere syndrome.

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

4.  Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family.

Authors:  Sarah Camargos; Rita Guerreiro; Jose Bras; Luis Sergio Mageste
Journal:  Neurol Genet       Date:  2018-01-24
  4 in total

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