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Publicação
Novel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron disease
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Orientador(es)
Resumo(s)
Amyotrophic lateral sclerosis (ALS) is usually sporadic, but 20% of European ancestry cases have a family history of ALS or frontotemporal dementia (FTD). More than 30 genes confer a higher risk for ALS, and C9orf72, TARDBP, SOD1 and FUS account for nearly 70% of all familial (fALS) cases. Tank-binding kinase 1 (TBK1) is an established causal gene associated with 1% of fALS and/or FTD. It codes for a multifunctional kinase involved in multiple cellular processes, such as neuroinflammation and autophagy. Both loss-of-function (LoF) and missense mutations are associated with an increased risk for ALS-FTD spectrum and mutations that cause a 50% reduction of TBK1 protein levels are considered pathogenic.
Descrição
© 2019 Elsevier B.V. All rights reserved.
Palavras-chave
Amyotrophic lateral sclerosis Familial motor neuron disorder Primary lateral sclerosis phenotype TBK1 mutation
Contexto Educativo
Citação
J Neurol Sci. 2019 Aug 15;403:117-118
Editora
Elsevier