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
DOIAbstract
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
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