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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 15, 2014 - Issue 1-2
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Case Reports

Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient

Monica Bandettini Di PoggioDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of GenoaCorrespondence[email protected]
,
Margherita Monti BragadinDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa
,
Lizia ReniDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa
,
Laura Doria-LambaChildren Neuropsychiatry Operative Unit, G. Gaslini Institute, Genoa
,
Cristina CeredaLaboratory of Experimental Neurobiology, IRCCS National Neurological Institute ‘C. Mondino’ Foundation, Pavia
,
Matteo PardiniDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa
,
Luca RoccatagliataDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa
,
Andrea RossiPediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy
&
Angelo SchenoneDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa
 show all
Pages 141-144 | Received 30 May 2013, Accepted 20 Aug 2013, Published online: 01 Oct 2013

References

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  • Bandettini di Poggio M, Gagliardi S, Pardini M, Marchioni E, Monti Bragadin M, Reni L, et al. A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome. Eur J Neurol. 2013;20:e94–5.
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  • Summers BA, Swash M, Schwartz MS, Ingram DA. Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetto-Van Laere syndrome or Madras-type motor neuron disease?. J Neurol. 1987;234:440–2.
  • Brucher JM, Dom R, Lombaert A, Carton H. Progressive pontobulbar palsy with deafness: clinical and pathological study of two cases. Arch Neurol. 1981;38:186–90.
  • Dakhil FO, Bensreiti SM, Zew MH. Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-Van Laere syndrome): the first case from Lybia. Amyotroph Lateral Scler. 2010;11:397–8.
  • Vialetto E. Contributo alla forma ereditaria della paralisi bulbare progressive. Riv Sper Freniat. 1936;40:1–24.

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