A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer’s disease-Reference-Cited by-同舟云学术

A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer’s disease

Published:2021-04-15 Issue:6 Volume:42 Page:2497-2504
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Guven Gamze^ORCID,Samanci Bedia^ORCID,Gulec Cagri^ORCID,Hanagasi Hasmet^ORCID,Gurvit Hakan^ORCID,Gokalp Ebru Erzurumluoglu^ORCID,Tepgec Fatih^ORCID,Guler Suleyman,Uyguner Oya^ORCID,Bilgic Basar^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-021-05243-w.pdf

Reference30 articles.

1. Cacace R, Sleegers K, Van Broeckhoven C (2016) Molecular genetics of early-onset Alzheimer’s disease revisited. Alzheimers Dement 12:733–748. https://doi.org/10.1016/j.jalz.2016.01.012

2. Guerreiro RJ, Gustafson DR, Hardy J (2012) The genetic architecture of Alzheimer’s disease: beyond APP, PSENs and APOE. Neurobiol Aging 33:437–456. https://doi.org/10.1016/j.neurobiolaging.2010.03.025

3. Park KW, An SS, Bagyinszky E, Kim S (2017) A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer’s dementia supported by structure prediction. Clin Interv Aging 12:367–375. https://doi.org/10.2147/CIA.S128884

4. Binetti G, Signorini S, Squitti R, Alberici A, Benussi L, Cassetta E, Frisoni GB, Barbiero L, Feudatari E, Nicosia F, Testa C, Zanetti O, Gennarelli M, Perani D, Anchisi D, Ghidoni R, Rossini PM (2003) Atypical dementia associated with a novel presenilin-2 mutation. Ann Neurol 54:832–836. https://doi.org/10.1002/ana.10760

5. McKhann GM, Knopman DS, Chertkow H, Hyman BT, Jack CR Jr, Kawas CH, Klunk WE, Koroshetz WJ, Manly JJ, Mayeux R, Mohs RC, Morris JC, Rossor MN, Scheltens P, Carrillo MC, Thies B, Weintraub S, Phelps CH (2011) The diagnosis of dementia due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzheimers Dement 7:263–269. https://doi.org/10.1016/j.jalz.2011.03.005

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