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Title: Familial Behr syndrome-like phenotype with autosomal dominant inheritance
Authors: Felicio, Andre C. [UNIFESP]
Godelro-Junior, Clecio [UNIFESP]
Alberto, Lucianna G. [UNIFESP]
Pinto, Aline P. M. [UNIFESP]
Sallum, Juliana M. F. [UNIFESP]
Telve, Helio G.
Barsottini, Orlando G. P. [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Univ Fed Parana
Keywords: Behr syndrome
cerebellar ataxia
optic atrophy
autosomal dominant
Issue Date: 1-Jan-2008
Publisher: Elsevier B.V.
Citation: Parkinsonism & Related Disorders. Oxford: Elsevier B.V., v. 14, n. 4, p. 370-372, 2008.
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.
ISSN: 1353-8020
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Appears in Collections:Em verificação - Geral

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