Article
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.
JAMA neurology - 1 Feb 2014
Caroppo Paola, Le Ber Isabelle, Clot Fabienne, Rivaud-Péchoux Sophie, Camuzat Agnès, De Septenville Anne, Boutoleau-Bretonnière Claire, Mourlon Vanessa, Sauvée Mathilde, Lebouvier Thibaud, Bonnet Anne-Marie, Levy Richard, Vercelletto Martine, Brice Alexis
Abstract excerpt
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). DESIGN, SETTING, AND PARTICIPANTS: Sequencing of the DCTN1 gene in familial...
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