Familial Behr syndrome-like phenotype with autosomal dominant inheritance

Familial Behr syndrome-like phenotype with autosomal dominant inheritance

Author Felicio, Andre C. Autor UNIFESP Google Scholar
Godelro-Junior, Clecio Autor UNIFESP Google Scholar
Alberto, Lucianna G. Autor UNIFESP Google Scholar
Pinto, Aline P. M. Autor UNIFESP Google Scholar
Sallum, Juliana M. F. Autor UNIFESP Google Scholar
Telve, Helio G. Google Scholar
Barsottini, Orlando G. P. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Univ Fed Parana
Abstract Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. in this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome-like phenotype emphasizing their clinical and neuroimaging features. (c) 2007 Elsevier B.V. All rights reserved.
Keywords Behr syndrome
cerebellar ataxia
optic atrophy
autosomal dominant
Language English
Date 2008-01-01
Published in Parkinsonism & Related Disorders. Oxford: Elsevier B.V., v. 14, n. 4, p. 370-372, 2008.
ISSN 1353-8020 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 370-372
Origin http://dx.doi.org/10.1016/j.parkreldis.2007.08.008
Access rights Closed access
Type Article
Web of Science ID WOS:000257646500022
URI http://repositorio.unifesp.br/handle/11600/30293

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