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Indian Journal of Genetics and Molecular Research

Volume  11, Issue 2, July-December 2022, Pages 69-77
 

Review Article

Genetic Insight into Familial and Sporadic Alzheimer’s Disease

Bibhas Kar, Ireen Femeela,

1 Consultant and Head, Department of Genetics and Molecular Medicine, Kokilaben Dhirubhai Ambani Hospital & Medical Research Institute, Mumbai 400053, India, 2 Research Intern, Center for Genetic Studies & Research, The Madras Medical Mission, Chennai 600053, India.

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DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.11222.4

Abstract

Alzheimer’s disease (AD) is a neurodegenerative disorder and common form of dementia in elderly patients accounting for 60 to 80 percent of cases worldwide. The hallmark of AD is deposition of neurofibrillary tangles and amyloid plaques in the brain that lead to neurotoxicity and irreversible loss of neurons in the hippocampus and cortex. Based on the onset of age, AD can be classified into early onset (<65 years) and late-onset>≥ 65 years) groups. Genetic factors such as gene mutation as well as environmental factors both can trigger the disease pathogenesis. The preliminary diagnosis can be performed based on the specific clinical symptoms and genetic analysis can help in establishing the familial cases. Treatments are suggested according to the stages of AD, such as mild, moderate, and severe, based on the clinical symptoms and the diagnosis of the patients.This review focuses on overall AD.


Keywords : Early onset; Late onset; Neurofibrillary tangles; Tau protein.
Corresponding Author : Bibhas Kar, Consultant and Head, Department of Genetics and Molecular Medicine, Kokilaben Dhirubhai Ambani Hospital & Medical Research Institute, Mumbai 400053, India.drbibhaskar65@gmail.com