10 research outputs found
A tributação da remuneração de serviços de assistência técnica, sem transferência técnica, prestados por não-residentes em Estado com o qual o Brasil possua tratado para evitar a bitributação. Estudo de caso
Segurança jurÃdica e coisa julgada: uma análise crÃtica do Parecer 492/2011 da Procuradoria-Geral da Fazenda Nacional
Judicial review: podemos tirar algum proveito da PEC 33/2011? = Judicial review: could we take any advantage from the PEC 33/2011?
Da inaplicabilidade do § 2.º do art. 896 da CLT às execuções fiscais ajuizadas pela Fazenda Nacional e que tramitam na Justiça do Trabalho
Concessão de uso de bem público para geração de energia elétrica. Constituição de consórcio na condição de produtoras independentes. Desapropriação de imóveis declarados de utilidade pública. Incidência, ou não, do ITR e do IPTU
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A novel complex neurological phenotype due to a homozygous mutation in FDX2
Defects in iron–sulphur [Fe-S] cluster biogenesis are increasingly recognized as causing neurological disease. Mutations in a number of genes that encode proteins involved in mitochondrial [Fe-S] protein assembly lead to complex neurological phenotypes. One class of proteins essential in the early cluster assembly are ferredoxins. FDX2 is ubiquitously expressed and is essential in the de novo formation of [2Fe-2S] clusters in humans. We describe and genetically define a novel complex neurological syndrome identified in two Brazilian families, with a novel homozygous mutation in FDX2. Patients were clinically evaluated, underwent MRI, nerve conduction studies, EMG and muscle biopsy. To define the genetic aetiology, a combination of homozygosity mapping and whole exome sequencing was performed. We identified six patients from two apparently unrelated families with autosomal recessive inheritance of a complex neurological phenotype involving optic atrophy and nystagmus developing by age 3, followed by myopathy and recurrent episodes of cramps, myalgia and muscle weakness in the first or second decade of life. Sensory-motor axonal neuropathy led to progressive distal weakness. MRI disclosed a reversible or partially reversible leukoencephalopathy. Muscle biopsy demonstrated an unusual pattern of regional succinate dehydrogenase and cytochrome c oxidase deficiency with iron accumulation. The phenotype was mapped in both families to the same homozygous missense mutation in FDX2 (c.431C 4 T, p.P144L). The deleterious effect of the mutation was validated by real-time reverse transcription polymerase chain reaction and western blot analysis, which demonstrated normal expression of FDX2 mRNA but severely reduced expression of FDX2 protein in muscle tissue. This study describes a novel complex neurological phenotype with unusual MRI and muscle biopsy features, conclusively mapped to a mutation in FDX2, which encodes a ubiquitously expressed mitochondrial ferredoxin essential for early [Fe-S] cluster biogenesis