以視空間障礙為首發癥狀的 <i>PSEN1</i> G206S突變早發型阿爾茨海默病一例_West China Medical Journal

Authors：

馮紫娟 , 張子伊 ,  張舒婷

四川大學華西醫院神經內科（成都 610041）;

Corresponding?author：

張舒婷, Email: shutingzhang@scu.edu.cn

Keywords：

早發型阿爾茨海默病; PSEN1 G206S; 基因突變

DOI：

10.7507/1002-0179.202304005

Video：

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Citation： 馮紫娟, 張子伊, 張舒婷. 以視空間障礙為首發癥狀的 PSEN1 G206S突變早發型阿爾茨海默病一例. West China Medical Journal, 2023, 38(5): 784-786. doi: 10.7507/1002-0179.202304005 Copy

1.	Cacace, R, Sleegers K, Van Broeckhoven C. Molecular genetics of early-onset Alzheimer’s disease revisited. Alzheimers Dement, 2016, 12(6): 733-748.
2.	Ayodele T, Rogaeva E, Kurup JT, et al. Early-onset Alzheimer’s disease: what is missing in research?. Curr Neurol Neurosci Rep, 2021, 21(2): 4.
3.	Lanoiselée HM, Nicolas G, Wallon D, et al. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: a genetic screening study of familial and sporadic cases. PLoS Med, 2017, 14(3): e1002270.
4.	Bagaria J, Bagyinszky E, An SSA. Genetics, functions, and clinical impact of presenilin-1 (PSEN1) gene. Int J Mol Sci, 2022, 23(18): 10970.
5.	Zhang S, Zhang M, Cai F, et al. Biological function of Presenilin and its role in AD pathogenesis. Transl Neurodegener, 2013, 2(1): 15.
6.	Chen WT, Hsieh YF, Huang YJ, et al. G206D mutation of presenilin-1 reduces Pen2 interaction, increases Aβ42/Aβ40 ratio and elevates ER Ca²⁺ accumulation. Mol Neurobiol, 2015, 52(3): 1835-1849.
7.	Bagyinszky E, Park SA, Yan C, et al. Pathogenic PSEN1 mutation detected in a Korean EOAD patient. Alzheimers Dement, 2014, 10: 348.
8.	Roh JH, Na HR, Yang DW, et al. Potential opportunities for Korean participation in the DIAN study. Alzheimer Dement, 2014, 10(4S): 815.
9.	Yan C, Bagyinszky E, An SS, et al. PSEN1 L226F: a pathogenic mutation in a Korean EOAD patient. Toxicol Environ Health Sci, 2013, 5: S76.
10.	Rogaeva EA, Fafel KC, Song YQ, et al. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology, 2001, 57(4): 621-625.
11.	Raux G, Guyant-Maréchal L, Martin C, et al. Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update. J Med Genet, 2005, 42(10): 793-795.
12.	Park HK, Na DL, Lee JH, et al. Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer’s disease. J Korean Med Sci, 2008, 23(2): 213-217.
13.	Liu J, Wang Q, Jing D, et al. Diagnostic approach of early-onset dementia with negative family history: implications from two cases of early-onset Alzheimer’s disease with de novo PSEN1 mutation. J Alzheimers Dis, 2019, 68(2): 551-558.
14.	Snider BJ, Norton J, Coats MA, et al. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch Neurol, 2005, 62(12): 1821-1830.
15.	Pastor P, Roe CM, Villegas A, et al. Apolipoprotein Eε4 modifies Alzheimer’s disease onset in an E280A PS1 kindred. Ann Neurol, 2003, 54(2): 163-169.
16.	Mendez MF, Lee AS, Joshi A, et al. Nonamnestic presentations of early-onset Alzheimer’s disease. Am J Alzheimers Dis Other Demen, 2012, 27(6): 413-420.
17.	Zhang S, Lei C, Liu P, et al. Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: a systematic review. Neurosci Biobehav Rev, 2015, 56: 180-192.

1. Cacace, R, Sleegers K, Van Broeckhoven C. Molecular genetics of early-onset Alzheimer’s disease revisited. Alzheimers Dement, 2016, 12(6): 733-748.
2. Ayodele T, Rogaeva E, Kurup JT, et al. Early-onset Alzheimer’s disease: what is missing in research?. Curr Neurol Neurosci Rep, 2021, 21(2): 4.
3. Lanoiselée HM, Nicolas G, Wallon D, et al. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: a genetic screening study of familial and sporadic cases. PLoS Med, 2017, 14(3): e1002270.
4. Bagaria J, Bagyinszky E, An SSA. Genetics, functions, and clinical impact of presenilin-1 (PSEN1) gene. Int J Mol Sci, 2022, 23(18): 10970.
5. Zhang S, Zhang M, Cai F, et al. Biological function of Presenilin and its role in AD pathogenesis. Transl Neurodegener, 2013, 2(1): 15.
6. Chen WT, Hsieh YF, Huang YJ, et al. G206D mutation of presenilin-1 reduces Pen2 interaction, increases Aβ42/Aβ40 ratio and elevates ER Ca²⁺ accumulation. Mol Neurobiol, 2015, 52(3): 1835-1849.
7. Bagyinszky E, Park SA, Yan C, et al. Pathogenic PSEN1 mutation detected in a Korean EOAD patient. Alzheimers Dement, 2014, 10: 348.
8. Roh JH, Na HR, Yang DW, et al. Potential opportunities for Korean participation in the DIAN study. Alzheimer Dement, 2014, 10(4S): 815.
9. Yan C, Bagyinszky E, An SS, et al. PSEN1 L226F: a pathogenic mutation in a Korean EOAD patient. Toxicol Environ Health Sci, 2013, 5: S76.
10. Rogaeva EA, Fafel KC, Song YQ, et al. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology, 2001, 57(4): 621-625.
11. Raux G, Guyant-Maréchal L, Martin C, et al. Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update. J Med Genet, 2005, 42(10): 793-795.
12. Park HK, Na DL, Lee JH, et al. Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer’s disease. J Korean Med Sci, 2008, 23(2): 213-217.
13. Liu J, Wang Q, Jing D, et al. Diagnostic approach of early-onset dementia with negative family history: implications from two cases of early-onset Alzheimer’s disease with de novo PSEN1 mutation. J Alzheimers Dis, 2019, 68(2): 551-558.
14. Snider BJ, Norton J, Coats MA, et al. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch Neurol, 2005, 62(12): 1821-1830.
15. Pastor P, Roe CM, Villegas A, et al. Apolipoprotein Eε4 modifies Alzheimer’s disease onset in an E280A PS1 kindred. Ann Neurol, 2003, 54(2): 163-169.
16. Mendez MF, Lee AS, Joshi A, et al. Nonamnestic presentations of early-onset Alzheimer’s disease. Am J Alzheimers Dis Other Demen, 2012, 27(6): 413-420.
17. Zhang S, Lei C, Liu P, et al. Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: a systematic review. Neurosci Biobehav Rev, 2015, 56: 180-192.

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以視空間障礙為首發癥狀的 PSEN1 G206S突變早發型阿爾茨海默病一例

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