Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder

Sosero, Yuri L;Yu, Eric;Estiar, Mehrdad A;Krohn, Lynne;Mufti, Kheireddin;Rudakou, Uladzislau;Ruskey, Jennifer A;Asayesh, Farnaz;Laurent, Sandra B;Spiegelman, Dan;Trempe, Jean-François;Quinnell, Timothy G;Oscroft, Nicholas;Arnulf, Isabelle;Montplaisir, Jacques Y;Gagnon, Jean-François;Desautels, Alex;Dauvilliers, Yves;Gigli, Gian Luigi;Valente, Mariarosaria;Janes, Francesco;Bernardini, Andrea;Sonka, Karel;Kemlink, David;Oertel, Wolfgang;Janzen, Annette;Plazzi, Giuseppe;Antelmi, Elena;Biscarini, Francesco;Figorilli, Michela;Puligheddu, Monica;Mollenhauer, Brit;Trenkwalder, Claudia;Sixel-Döring, Friederike;Cochen De Cock, Valérie;Monaca, Christelle Charley;Heidbreder, Anna;Ferini-Strambi, Luigi;Dijkstra, Femke;Viaene, Mineke;Abril, Beatriz;Boeve, Bradley F;Postuma, Ronald B;Rouleau, Guy A;Ibrahim, Abubaker;Stefani, Ambra;Högl, Birgit;Hu, Michele T M;Gan-Or, Ziv

2022-01-01

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Abstract

PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA. GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy.