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Young-onset rapidly progressive ALS associated with heterozygous FUS mutation

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Resumo:We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. The only previous report on this mutation was in a family from Cape Verde in which four members developed ALS; all were homozygous for the mutation. This case shows that this FUS mutation presents a highly variable penetrance and expressivity.
Autores principais:Gromicho, Marta
Outros Autores:Oliveira Santos, Miguel; Pinto, Anabela; Pronto Laborinho, Ana Catarina; Carvalho, Mamede
Assunto:Amyotrophic lateral sclerosis Cape Verde FUS mutation Dominant transmission Young-onset
Ano:2017
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso restrito
Instituição associada:Universidade de Lisboa
Idioma:inglês
Origem:Repositório da Universidade de Lisboa

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