Autosomal dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectu...

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Detalles Bibliográficos
Publicado en:Hum Mutat
Main Authors: Ruaud, Lyse, Rice, Gillian I, Cabrol, Christelle, Piard, Juliette, Rodero, Mathieu, van Eyk, Lien, Boucher-Brischoux, Elise, de Noordhout, Alain Maertens, Maré, Ricardo, Scalais, Emmanuel, Pauly, Fernand, Debray, François-Guillaume, Dobyns, William, Uggenti, Carolina, Park, Ji Woo, Hur, Sun, Livingston, John H, Crow, Yanick J, Van Maldergem, Lionel
Formato: Artigo
Idioma:Inglês
Publicado: 2018
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6043383/
https://ncbi.nlm.nih.gov/pubmed/29782060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23554
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