publication . Review . Other literature type . Article . 2014

The genetics of Alzheimer's disease.

Eva Bagyinszky; SangYun Kim; Young Chul Youn; Seong Soo A. An;
Open Access English
  • Published: 01 Apr 2014 Journal: Clinical Interventions in Aging (issn: 1178-1998, Copyright policy)
  • Publisher: Dove Press
Abstract
Eva Bagyinszky,1 Young Chul Youn,2 Seong Soo A An,1,* SangYun Kim3,*1Department of BioNano Technology Gachon University, Gyeonggi-do, 2Department of Neurology, Chung-Ang University College of Medicine, Seoul, 3Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Korea*These authors contributed equally to this workAbstract: Alzheimer's disease (AD) is a complex and heterogeneous neurodegenerative disorder, classified as either early onset (under 65 years of age), or late onset (over 65 years of age). Three main genes are involved in early onset AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (P...
Subjects
free text keywords: Clinical Interventions in Aging, Geriatrics and Gerontology, General Medicine, dementia, amyloid precursor protein, presenilin 1, presenilin 2, APOE, mutation, diagnosis, genetic testing, Geriatrics, RC952-954.6, Alzheimer's disease, medicine.disease, medicine, PSEN2, SORL1, PSEN1, business.industry, business, Complement receptor 1, biology.gene, biology, Genetics, TREM2, Presenilin, PICALM
Related Organizations
199 references, page 1 of 14

1. Ertekin-Taner N. Genetics of Alzheimer's disease: a centennial review. Neurol Clin. 2007;25(12):611-617.

2. Reitz C, Mayeux R. Use of genetic variation as biomarkers for Alzheimer's disease. Ann N Y Acad Sci. 2009;1180:75-96. [OpenAIRE]

3. Brickell KL, Leverenz JB, Steinbart EJ, et al. Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2007;78(10):1050-1055. [OpenAIRE]

4. Meyer JM, Breitner JC. Multiple threshold model for the onset of Alzheimer's disease in the NAS-NRC twin panel. Am J Med Genet. 1998;81(1):92-97.

5. Bird DT. Genetic aspects of Alzheimer disease. Genet Med. 2008;10(4): 231-239.

6. Sorbi S, Forleo P, Tedde A, et al. Genetic risk factors in familial Alzheimer's disease. Mech Ageing Dev. 2001;122(16):1951-1960.

7. Schellenberg GD, Anderson L, O'dahl S, et al. APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease. Am J Med Genet. 1991;49(3):511-517.

8. Tanzi RE, Vaula G, Romano DM, et al. Assessment of amyloid betaprotein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Med Genet. 1992;51(2):273-282. [OpenAIRE]

9. Bertram L, Tanzi RE. The genetic epidemiology of neurodegenerative disease. J Clin Investig. 2005;115(6):1449-1457.

10. Rademakers R, Cruts M, Van Broeckhoven C. Genetics of early-onset Alzheimer dementia. ScientificWorldJournal . 2003;3:497-519. [OpenAIRE]

11. Prasher VP, Farrer MJ, Kessling AM, et al. Molecular mapping of Alzheimer-type dementia in Down's syndrome. Ann Neurolol. 1998;43(3):380-383. [OpenAIRE]

12. König G, Mönning U, Czech C, et al. Identification and differential expression of a novel alternative splice isoform of the beta A4 amyloid precursor protein (APP) mRNA in leukocytes and brain microglial cells. J Biol Chem. 1992;267(15):10804-10809. [OpenAIRE]

13. De Jonghe C, Esselens C, Kumar-Singh S, et al. Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability. Hum Mol Genet. 2001;10(16):1665-1671.

14. Cruts M, Theuns J, Van Broeckhoven C. Locus-specif ic mutation databases for neurodegenerative brain diseases. Hum Mutat. 2012;33(9):1340-1344. [OpenAIRE]

15. Mullan M, Crawford F, Axelman K, et al. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. Nat Genet. 1992;1(5):345-347. [OpenAIRE]

199 references, page 1 of 14
Abstract
Eva Bagyinszky,1 Young Chul Youn,2 Seong Soo A An,1,* SangYun Kim3,*1Department of BioNano Technology Gachon University, Gyeonggi-do, 2Department of Neurology, Chung-Ang University College of Medicine, Seoul, 3Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Korea*These authors contributed equally to this workAbstract: Alzheimer's disease (AD) is a complex and heterogeneous neurodegenerative disorder, classified as either early onset (under 65 years of age), or late onset (over 65 years of age). Three main genes are involved in early onset AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (P...
Subjects
free text keywords: Clinical Interventions in Aging, Geriatrics and Gerontology, General Medicine, dementia, amyloid precursor protein, presenilin 1, presenilin 2, APOE, mutation, diagnosis, genetic testing, Geriatrics, RC952-954.6, Alzheimer's disease, medicine.disease, medicine, PSEN2, SORL1, PSEN1, business.industry, business, Complement receptor 1, biology.gene, biology, Genetics, TREM2, Presenilin, PICALM
Related Organizations
199 references, page 1 of 14

1. Ertekin-Taner N. Genetics of Alzheimer's disease: a centennial review. Neurol Clin. 2007;25(12):611-617.

2. Reitz C, Mayeux R. Use of genetic variation as biomarkers for Alzheimer's disease. Ann N Y Acad Sci. 2009;1180:75-96. [OpenAIRE]

3. Brickell KL, Leverenz JB, Steinbart EJ, et al. Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2007;78(10):1050-1055. [OpenAIRE]

4. Meyer JM, Breitner JC. Multiple threshold model for the onset of Alzheimer's disease in the NAS-NRC twin panel. Am J Med Genet. 1998;81(1):92-97.

5. Bird DT. Genetic aspects of Alzheimer disease. Genet Med. 2008;10(4): 231-239.

6. Sorbi S, Forleo P, Tedde A, et al. Genetic risk factors in familial Alzheimer's disease. Mech Ageing Dev. 2001;122(16):1951-1960.

7. Schellenberg GD, Anderson L, O'dahl S, et al. APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease. Am J Med Genet. 1991;49(3):511-517.

8. Tanzi RE, Vaula G, Romano DM, et al. Assessment of amyloid betaprotein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Med Genet. 1992;51(2):273-282. [OpenAIRE]

9. Bertram L, Tanzi RE. The genetic epidemiology of neurodegenerative disease. J Clin Investig. 2005;115(6):1449-1457.

10. Rademakers R, Cruts M, Van Broeckhoven C. Genetics of early-onset Alzheimer dementia. ScientificWorldJournal . 2003;3:497-519. [OpenAIRE]

11. Prasher VP, Farrer MJ, Kessling AM, et al. Molecular mapping of Alzheimer-type dementia in Down's syndrome. Ann Neurolol. 1998;43(3):380-383. [OpenAIRE]

12. König G, Mönning U, Czech C, et al. Identification and differential expression of a novel alternative splice isoform of the beta A4 amyloid precursor protein (APP) mRNA in leukocytes and brain microglial cells. J Biol Chem. 1992;267(15):10804-10809. [OpenAIRE]

13. De Jonghe C, Esselens C, Kumar-Singh S, et al. Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability. Hum Mol Genet. 2001;10(16):1665-1671.

14. Cruts M, Theuns J, Van Broeckhoven C. Locus-specif ic mutation databases for neurodegenerative brain diseases. Hum Mutat. 2012;33(9):1340-1344. [OpenAIRE]

15. Mullan M, Crawford F, Axelman K, et al. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. Nat Genet. 1992;1(5):345-347. [OpenAIRE]

199 references, page 1 of 14
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