Article
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Neuropediatrics - 1 Dec 2014
Crow Yanick J, Zaki Maha S, Abdel-Hamid Mohamed S, Abdel-Salam Ghada, Boespflug-Tanguy Odile, Cordeiro Nuno J V, Gleeson Joseph G, Gowrinathan Nirmala Rani, Laugel Vincent, Renaldo Florence, Rodriguez Diana, Livingston John H, Rice Gillian I
Abstract excerpt
BACKGROUND: Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined. METHODS: We identified a series of patients with a phenotype of nonsyndromic spastic paraplegia in whom no diagnosis had been reached before exome sequencing. We measured the expression of...
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