Fatty acid 2-hydroxylase deficiency Clinical features and brain iron accumulation

Fatty acid 2-hydroxylase deficiency Clinical features and brain iron accumulation

Author Pedroso, Jose Luiz Autor UNIFESP Google Scholar
Handfas, Benjamin W. Google Scholar
Abrahão, Agessandro Autor UNIFESP Google Scholar
Kok, Fernando Google Scholar
Barsottini, Orlando Graziani Povoas Autor UNIFESP Google Scholar
Oliveira, Acary Souza Bulle Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Hosp Israelita Albert Einstein
Mendel Genom Anal
Abstract A 21-year-old woman presented with progressive spastic paraplegia, dysarthria, and strabismus since 7 years of age (video on the Neurology (R) Web site at Neurology.org). Brain MRI disclosed white matter changes and iron accumulation (figure). Whole exome sequencing detected in fatty acid 2-hydroxylase (FA2H) gene 2 variants never reported: c.169_170insGCGGGCCAGG (p.Asp57Glyfs*66), leading, if translated, to a truncated protein, and c.117C>A (p.Phe39Leu), predicted by computational algorithms to be deleterious.
Language English
Date 2015-03-03
Published in Neurology. Philadelphia: Lippincott Williams & Wilkins, v. 84, n. 9, p. 960-961, 2015.
ISSN 0028-3878 (Sherpa/Romeo, impact factor)
Publisher Lippincott Williams & Wilkins
Extent 960-961
Origin http://dx.doi.org/10.1212/WNL.0000000000001316
Access rights Open access Open Access
Type Editorial
Web of Science ID WOS:000350576700022
URI http://repositorio.unifesp.br/handle/11600/38875

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