REVIEW ON EARLY ONSET ALZHEIMER’S DISEASE
Abstract
Alzheimer’s disease (AD) is the most common progressive neurodegenerative disease and the most common form of dementia. There are two major types of AD these are early onset Alzheimer’s disease (EOAD) and late onset Alzheimer’s disease (LOAD). The genetics of EOAD are largely understood with mutation in three different genes leading to the disease. Here we review the known genetics of EOAD. The most widely accepted hypothesis is the amyloid cascade hypothesis. Preliminary data suggest that CSF markers such as Aβ and Tau levels may be considered as a helpful tool in the diagnosis of early onset Alzheimer’s disease (EOAD). Assessment of biomarkers in EOAD should be recommended in order to increase diagnostic accuracy in those cases with atypical presentation and /or familial aggregation of the disease. The typical presentation is more frequent in EOAD than in late onset Alzheimer’s disease (LOAD). To date more than 160 highly penetrant but rare mutation have been described in three genes amyloid precursor protein(APP), presenilin 1(PSEN1) and presenilin 2(PSEN2). PSEN1 is the most frequently mutated EOAD gene with a mutation frequently of 18-50% in autosomal dominant EOAD.
Keywords:
Alzheimer’s disease, gene mutation, β-amyloid peptide(Aβ), Early Onset Alzheimer’s Disease(EOAD), Kinase enzymesReferences
Maurer K, Volk S, Gerbaldo H. Auguste D and Alzheimer’s disease. Lancet. 1997;349 (9064):1546–1549. [PubMed] [Google Scholar]
M. Strassnig and M. Ganguli, “About a peculiar disease of the cerebral cortex: Alzheimer’s original case revisited,” Psychiatry, vol. 2, pp. 30–33, 2005
Terry RD, Davies P. Dementia of the Alzheimer type. Annu Rev Neurosci. 1980;3:77–95. [PubMed] [Google Scholar]
D. J. Selkoe, “Biochemistry and molecular biology of amyloid
D. J. Selkoe, “Alzheimer’s disease: a central role for amyloid,”Journal of Neuropathology and Experimental Neurology, vol. 53, no. 5, pp. 438–447, 1994.
H.Braak and E. Braak, “Evolution of neuronal changes in the course of alzheimer’s disease,” Journal of Neural Transmission, no. 53, pp. 127–140, 1998.
Samson EL, Warr’n JD, Rossor MN Young Onset Dementia, Post grad Med, 2004; 80;125-139.
Querfurth HW, LaFerla FM. Alzheimers disease. N Engl J Med 2010, 362-344.
Katzman R: Alzheimer’s disease, N Engl J Med 314:964,1986.
Grecius MD, Geschwind MD,Miller BL. Presenile dementia: an update on taxonomy and diagnosis. J Neurol Neurosurg Psychiatry.2002; 72:691-700.
Robert C.Barber, The genetics of Alzheimer’s disease, Hindawi Publishing Corporation, scientific volume 2012,Article ID 246210,14 pages.
Perry G. Ridge, Mark T.W.Ebbert, and John S.K.Kauwe, Genetics of Alzheimer’s disease, Hindawi publishing corporation, Biomed Research international. Volume 2013, Article ID 254954, 13 pages.
Zhangyu Zou, Changyun Liu, Chunhui Che, and Huapin Huang, Clinical Genetics of Alzheimer’s disease, Hindawi Publishing corporation, Biomed Research international Volume 2014, Article ID 291862,10 pages.
R. E. Tanzi and L. Bertram, “Twenty years of the Alzheimer’s disease amyloid hypothesis: a genetic perspective,” Cell, vol. 120,no. 4, pp. 545–555, 2005.
C.Priller, T. Bauer, G.Mitteregger, B. Krebs, H. A. Kretzschmar, and J.Herms, “Synapse formation and function ismodulated by the amyloid precursor protein” The Journal of Neuroscience, vol.26, no. 27, pp. 7212–7221, 2006.
D. Scheuner, C. Eckman, M. Jensen et al., “Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer’s disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer’s disease,” Nature Medicine, vol. 2, no. 8, pp. 864–870, 1996.
D. Campion, J.-M. Flaman, A. Brice et al., “Mutations of the presenilin I gene in families with early-onset Alzheimer’s disease,” Human Molecular Genetics, vol. 4, no. 12, pp. 2373–2377, 1995.
S. F. Lee, S. Shah, H. Li, C. Yu, W. Han, and G. Yu, “Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-
Pharmacotherapy A Pathophysiological Approach by Joseph T.Dipiro, Robert L.Talbert, Gary C.Yee, Gary R.Matzke, Barbara G Wells, L.michael porey.
Huppert FA, Tym E; Clinical and Neuropsychological assessment of Dementia. Br Med Bull 42; 11, 1986.
Alzheimers association. Alzheimers disease and Dementia/ Alzheimers association. http://www.alz.org. Accessed –july 30-2019.
Clinical Pharmacy and therapeutics 4th edition Eric T.Herfindial, Dick R Gourley, Linda. Lloyd Hart.pg no; 655.
Sadowsky CH, Galvin JE. Guidelines for the management of cognitive and behavioral problems in dementia. J Am Board Fam Med 2012; 25; 350-366.
Elliott AF, Burgio LD, Decoster J. enhancing care giver health; findings from the resources for enhancing alzheimers care giver health II interventions. J. AM Geriatr Soc, 2010; 58; 30-37.
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