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16415 RESULTS

PSEN1 A360T

MUTATIONS PSEN1 73678599 GRCh37/hg19 rs199715992 G A Exon 10 Point, Missense Coding Unknown Unknown. In one carrier, CSF Aβ42 was reduced, but tau and phospho-tau levels were normal. In another, CSF phospho-tau was increased, but Aβ42 and tau were normal. MRI in la

PSEN1 L241R

MUTATIONS PSEN1 73659525 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but mutation carrier had CSF AD biomarker levels (Aβ42, tau, phospho-tau) in the pathological range.  L241R Alzhe

PSEN1 M210R

MUTATIONS PSEN1 73659432 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but levels of AD biomarkers in proband's CSF (Aβ42, tau, phospho-tau) were in the pathological range. M210R

PAPER Kleineidam L, Chourak V, Próchnicki T, van der Lee S, Madrid-Márquez L, Wagner-Thelen H, Karaca I, Weinhold L, Wolfsgruber S, Boland A, Martino Adami PV, Lewczuk P, Popp J, Brosseron F, Jansen I, Hulsman M, Kornhuber J, Peters O, Berr C, Heun R, Frölich L, Tzourio C, Dartigues JF, Hüll M, Espinosa A, Hernandez I, de Rojas I, Orellana A, Valero S, Stringa N, van Schoor NM, Huisman MA, Scheltens P, Rüther E, Deleuze JF, Wiltfang J, Tarraga L, Schmid M, Scherer M, Riedel-Heller S, Heneka MT, Amouyel P, Jessen F, Boada M, Maier W, Schneider A, González-Pérez A, van der Flier WM, Wagner M, Lambert JC, Holstege H, Sáez MA, Latz E, Ruiz A, Ramirez A

PLCG2 Protective Variant p.P522R Modulates Tau Pathology and Disease Progression in Patients with Mild Cognitive Impairment

The Lancet Preprints, December 29, 2018; posted January 2, 2019. Retrieved from https://papers.ssrn.com/sol3/papers.cfm?abstract_id=3307649

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