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DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.
JAMA Neurol
February 2014
Université Pierre et Marie Curie Université Paris 06, Unité Mixte de Recherche (UMR)_S975, Paris, France2Institut National de la Santé et de la Récherche Médicale, UMR_S975, Centre de Recherche Institut du Cerveau et de la Moelle, Paris, France3Centre Nat.
Importance: Progressive supranuclear palsy (PSP) is usually sporadic, but few pedigrees with familial clustering of PSP-like phenotypes have been described. Occasionally, MAPT, C9ORF72, and TARDBP mutations have been identified.
Objective: To analyze the DCTN1 gene in 19 families with a clinical phenotype of PSP (PSP-like phenotype).