Case Report Part 2 Alzheimer’s Disease DNP810
Case Report Part 2 Alzheimer’s Disease DNP810
Alzheimer’s Case Report Part II
This report is a continuation of the case study for client P.C. who is an 86-year-old female. P.C. ‘s daughter has asked questions related to the inherited risk factors for Alzheimer’s and is aware she may have inherited the condition from her mother. This paper will further discuss chromosomal analysis, the causes, origins and the mutations that are seen in patients with Alzheimer’s disease.
Genetic Origins & Chromosomal Analysis
AD is a complex neurodegenerative disease (Yuan, Xie, Sun, 2019). The primary risk factor is age as well as being female, and greater impairment is seen in females versus males (Nazarian, Yashin & Kulminski, 2019). Variants in identified genes are linked to the development of AD. Some studies have shown a link with the replication of BIN1, CLU, CR1, CD2AP, CD33, MS4A4E, MS4A6A, EPHA1, and PICALM genes in the development of AD (Nazarian, Yashin & Kulminski, 2019). However, AD can be categorized into early onset and late onset and both have different genetic and chromosomal linkages (Kim et al., 2020).
With early onset familial Alzheimer’s disease (FAD), single gene mutations occur on chromosomes 1, 14 and 21. (Nussbaum, McInnes, & Willard, 2016). While autosomal dominant inheritance is seen in 10% of FAD cases, the other 90% of FAD cases exhibit multifactorial inheritance (Nussbaum, McInnes, & Willard, 2016).
With late onset AD, there is a link to the APOE gene and higher amounts of ε4 allele. The APOE gene has been the only consistent gene found to be associated with the development of late onset AD and may suggest that both genetic and environmental risk factors play a part in late onset AD (Kim et al., 2020). Studies have found that variation of the APOE gene on chromosome 19 tends to have an increased risk for developing late onset AD (US Department of Health and Human Services, 2019).
There are three other genes that are associated with late onset autosomal dominant AD. These genes include APP, PSEN1 and PSEN2. The APP gene encodes amyloid precursor protein. Proteolysis of the membrane produces Aβ peptides and mutations are linked to Alzheimer’s disease (Alzforum, 2020). PSEN 1 encodes presenilin-1. Mutations of PSEN 1, of which there are more than 300, are considered the most prevalent cause of AD (Kim et al., 2020). The mutations impair the γ-secretase system of APP and change them to beta amyloid fragments. A higher Aβ42 to Aβ40 is formed and the insoluble fibrils which are toxic lead to AD (Alzforum, 2020). Lanoiselee et al. (2017) identified that only 77% of 90 specific mutations of PSEN 1 have a definite pathological course leading to AD. Practitioners should be mindful of this fact when they are conducting genetic counseling so they can guide patients correctly since only some mutations may result in AD. PSEN2 encodes presenilin-2. Mutations are rare but can also cause AD (Alzforum, 2020).
There are two additional genes associated with genetic mutation that lead to AD or neuropathology of encoded proteins, TREM 2 and MAPT. TREM 2 encodes Triggering Receptor Expressed on Myeloid Cells 2 and variations cause Nasu-Hakola disease. This is an early form of dementia that can modify and develop into AD. MAPT is linked to a central protein that is a microtubule protein called tau. While MAPT does not cause Alzheimer’s specifically, it encodes the tau protein that can then lead to the development of dementia. The mutations alter the production of tau isoforms and lead to microtubule assembly or cause tau to aggregate and result in dementia (Alzforum, 2020).
While the research has evolved over the years related to the genetic factors that lead to AD, the development of AD is multifactorial in nature. No one model can explain the mode of transmission, gene mutations, polymorphisms or the environmental factors that cause AD (Van Cauwenberghe, Van Broeckhoven & Sleegers, 2016).
Causes of Alzheimer’s
Studies have successfully identified monogenic traits for early-onset familial AD. However, they have not been as successful in identifying late onset AD. Less than one percent of AD cases are considered early-onset. They typically follow an autosomal dominant inheritance pattern that is related to gene mutation in amyloid-beta (Aβ) protein production, aggregation, or clearance. The pathogenic mutations in APP, PSEN1 and PSEN 2 are considered the causes of early onset AD. The cause of late onset AD is more obscure and complex with susceptibility related to less penetrant genetic factors that interact with environmental factors. APOEε4 is the most firmly known genetic risk factor that causes late onset AD. The cause is related to the interaction of genetic factors such as APOE alleles with the environment (Sherva & Kowall, 2020).
APOE is an abundant lipoprotein that is found in the brain. It is involved with the equilibrium of cholesterol and provides neuronal protection and repair. It helps to remove amyloid-beta (Aβ). There are three APOE isoforms but the ε4 type has a different amino acid sequence that contains arginine that increases the charge on proteins. When oxidized, ε4 binds Aβ and forms amyloid plaques. The brain then shows neuronal loss as the ε4 allele may allow Aβ to build up over time. Additionally, APOE ε4 results in high levels of plasma lipoprotein that increases the risk of late onset AD in those who carry the ε4 allele. Carriers of the ε4 allele have a 400% more chance of getting AD (Sherva & Kowall, 2020).
Considerations for Practice & Patient Education
Genetic counseling and education are important for those who are at risk for developing or who have developed Alzheimer’s disease. An early and accurate diagnosis can help a patient maintain daily function for a longer period and potentially slow the progression of the disease. With an early diagnosis, those with AD and their families can plan for their future and ensure their legal and financial considerations are in order. They can address issues related to safety and ensure appropriate living arrangements are prepared for the more debilitating period of the disease when cognition is severely impaired.
There is much promise surrounding the possibility of having blood testing available for Alzheimer’s soon. Today, blood tests are limited to genetic tests that show a propensity for developing AD. The genetic tests are not definitive and not all who test positive will develop AD. Testing begins with questionnaires that can guide a doctor who suspects that a patient has AD. The test is more about ruling out the possibility of other diseases (Dementia Care Central, 2019).
While a definitive diagnosis of AD cannot be made except with an autopsy after death, the DNP prepared nurse can educate the client on other tests that are used to rule out the causes of symptoms when investigating whether a patient has dementia. Tests such as computer tomography (CT) scans, magnetic resonance imaging scans (MRI) or positron emission tomography (PET) scans are used to rule out symptoms cause by other diseases. These tests can be used as the doctors evaluate the patient’s memory and cognition over time. The tests can rule out problems such as strokes, tumors, and vascular dementia. Disease findings that are treatable and reversible can be addressed and treated (NIH, 2017).
Genetic counseling and education for families with risk for AD should include available diagnostic testing and available DNA testing such as APP, PSEN1, and PSEN2. Families should also be educated on treatment options. Although there is currently no cure for AD, treatment is focused on relieving neurological and behavioral problems. These treatment option, and community and website resources should be made available to patients and families (NIH, 2017).
The chromosomal analysis of Alzheimer’s disease shows that two forms of AD can emerge based on the variant of genes that are affected. Ten percent of AD cases result in early onset AD and most cases result in late onset. Both are caused by variants in the specific genes that are linked to each type. The gene mutations for early onset have an autosomal dominant inheritance while late onset AD is caused by a more complex process that relates to the interaction of genetic and environmental factors. The DNP nurse who understands the difference between the two forms will be better prepared to provide appropriate education and counseling to clients. With an understanding of the appropriate testing that needs to take place to rule out other causative factors for symptoms that are similar to AD, a more accurate diagnosis of AD can be made, and early treatment plans can be implemented.
Alzforum (2020). Mutations. Retrieved from https://www.alzforum.org/mutations.
Lanoiselée, H., Nicolas, G., Wallon, D., Rovelet-Lecrux, A., Lacour, M., Rousseau, S. Richard,
A., Pasquier, F., Rollin-Sillaire, A., Martinaud, O., Quillard-Muraine, M., De la Sayette, V., Boutoleau-Bretonniere, C., Etcharry-Bouyx, F., Chauviré, V., Sarazin, M., Le Ber, I., Epelbaum, S., Jonveaux, T.… collaborators of the CNR-MAJ project. (2017). APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. PLoS Medicine, 3, e1002270. https://doi-org.lopes.idm.oclc.org/10.1371/journal.pmed.1002270
Kim, Y. E., Cho, H., Kim, H. J., Na, D. L., Seo, S. W., & Ki, C. S. (2020). PSEN1 variants in
Korean patients with clinically suspicious early-onset familial Alzheimer’s disease. Scientific reports, 10(1), 3480. https://doi.org/10.1038/s41598-020-59829-z
Nazarian, A., Yashin, A.I. & Kulminski, A.M. (2019). Genome-wide analysis of genetic
predisposition to Alzheimer’s disease and related sex disparities. Alzheimer’s Research & Therapy 11, 5. https://doi.org/10.1186 /s13195-018-0458-8
Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2016). Thompson & Thompson: Genetics in medicine. Retrieved from
NIH, 2017. How is Alzheimer’s Disease Diagnosed? Retrieved from
Van Cauwenberghe, C., Van Broeckhoven, C. & Sleegers, K. (2016). The genetic landscape of
Alzheimer disease: clinical implications and perspectives. Genetics in Medicine 18, 421–430 (2016). https://doi.org/10.1038/gim.2015.117
DNP 810 Week 3 Case Report Part 2 Details:
You will be creating a case report in stages over four course topics. This assignment will add to your previous work in Topic 2. Use an example from your own personal practice, experience, or own personal/family; however, simulated cases are not acceptable for practice hours and therefore not acceptable for this assignment. Examples might include a patient with Duchesne’s muscular dystrophy. Huntington’s disease, Down’s syndrome, sickle cell anemia, BRCA 1 or BRCA 2 mutations, or other genetic disorder that you and/or the organization you practice in may specialize in treating.
Case Report Part 2 Alzheimer’s Disease DNP810 General Requirements:
Use the following information to ensure successful completion of the assignment:
- This assignment uses a rubric. Please review the rubric prior to beginning the assignment to become familiar with the expectations for successful completion.
- Doctoral learners are required to use APA style for their writing assignments. The APA Style Guide is located in the Student Success Center.
- This assignment requires that at least two additional scholarly research sources related to this topic, and at least one in-text citation from each source be included.
- You are required to submit this assignment to LopesWrite. Please refer to the directions in the Student Success Center.
Case Report Part 2 Alzheimer’s Disease DNP810 Directions:
For this assignment (Part 2 of the Case Report), write a 1,000-1,250 word paper incorporating genetics information learned from assigned readings in Topics 1-3. Include the following:
- Describe if chromosomal analysis is/was indicated.
- Detail the causes of the disorder.
- Describe the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education.
- Analyze the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs.
Portfolio Practice Hours:
Practice immersion assignments are based on your current course objectives, and are intended to be application-based learning using your real-world practice setting. These assignments earn practice immersion hours, and are indicated in the assignment by a Portfolio Practice Hours statement which reminds you, the student, to enter in a corresponding case log in Typhon. Actual clock hours are entered, but the average hours associated with each practice immersion assignment is 10.
You are required to complete your assignment using real-world application. Real-world application requires the use of evidence-based data, contemporary theories, and concepts presented in the course. The culmination of your assignment must present a viable application in a current practice setting. For more information on parameters for practice immersion hours, please refer to DNP resources in the DC Network.
To earn portfolio practice hours, enter the following after the references section of your paper:
Practice Hours Completion Statement DNP-810
I, (INSERT NAME), verify that I have completed (NUMBER OF) clock hours in association with the goals and objectives for this assignment. I have also tracked said practice hours in the Typhon Student Tracking System for verification purposes and will be sure that all approvals are in place from my faculty and practice mentor.
Case Report: Part 2 Rubric
Less Than Satisfactory
|10.0 %Description of Whether or Not Chromosomal Analysis Is/Was Indicated||Discussion of whether or not chromosomal analysis is/was indicated is not present.||Discussion of whether or not chromosomal analysis is/was indicated is present but incomplete.||Discussion of whether or not chromosomal analysis is/was indicated is present but done at a perfunctory level.||Discussion of whether or not chromosomal analysis is/was indicated is clearly present and convincing. Information presented is from scholarly though dated sources.||Discussion of whether or not chromosomal analysis is/was indicated is clearly present and insightful. Information presented is from current scholarly sources.|
|20.0 %Discussion of the Causes of the Disorder||Discussion of the causes of the disorder is not present. Case Report Part 2 Alzheimer’s Disease DNP810||Discussion of the causes of the disorder is present but incomplete.||Discussion of the causes of the disorder is present but done at a perfunctory level.||Discussion of the causes of the disorder is clearly present and convincing. Information presented is from scholarly though dated sources.||Discussion of the causes of the disorder is clearly present and insightful. Information presented is from current scholarly sources.|
|20.0 %Description of the Disorder in Terms of Its Origin as Either a Single Gene Inheritance, or as a Complex Inheritance and Considerations for Practice and Patient Education||Description of the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education is not presented.||Description of the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education is presented but incomplete.||Description of the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education is presented but done at a perfunctory level.||Description of the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education is clearly presented and convincing. Information presented is from mostly current scholarly but some outdated sources are used.||Description of the disorder in terms of its origin as either a single gene inheritance, or as a complex inheritance and considerations for practice and patient education is clearly presented, insightful and detailed. Information presented is from current scholarly sources.|
|20.0 %Analysis of the Gene Mutation of the Disease, as Well as Whether It Is Acquired or Inherited, and How the Mutation Occurs||Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is not presented.||Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is presented. Discussion is incomplete.||Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is presented. Discussion is done at a perfunctory level.||Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is clearly presented. Discussion is convincing. Information presented is from mostly current scholarly but some outdated sources are used.||Analysis of the gene mutation of the disease, as well as whether it is acquired or inherited, and how the mutation occurs is clearly presented. Discussion is insightful and detailed. Information presented is from current scholarly sources.|
|20.0 %Organization and Effectiveness|
|7.0 %Thesis Development and Purpose||Paper lacks any discernible overall purpose or organizing claim.||Thesis and/or main claim are insufficiently developed and/or vague; purpose is not clear.||Thesis and/or main claim are apparent and appropriate to purpose. Case Report Part 2 Alzheimer’s Disease DNP810||Thesis and/or main claim are clear and forecast the development of the paper. It is descriptive and reflective of the arguments and appropriate to the purpose.||Thesis and/or main claim are comprehensive. The essence of the paper is contained within the thesis. Thesis statement makes the purpose of the paper clear.|
|8.0 %Argument Logic and Construction||Statement of purpose is not justified by the conclusion. The conclusion does not support the claim made. Argument is incoherent and uses noncredible sources.||Sufficient justification of claims is lacking. Argument lacks consistent unity. There are obvious flaws in the logic. Some sources have questionable credibility.||Argument is orderly, but may have a few inconsistencies. The argument presents minimal justification of claims. Argument logically, but not thoroughly, supports the purpose. Sources used are credible. Introduction and conclusion bracket the thesis.||Argument shows logical progressions. Techniques of argumentation are evident. There is a smooth progression of claims from introduction to conclusion. Most sources are authoritative.||Clear and convincing argument that presents a persuasive claim in a distinctive and compelling manner. All sources are authoritative.|
|5.0 %Mechanics of Writing (includes spelling, punctuation, grammar, language use)||Surface errors are pervasive enough that they impede communication of meaning. Inappropriate word choice and/or sentence construction are used.||Frequent and repetitive mechanical errors distract the reader. Inconsistencies in language choice (register), sentence structure, and/or word choice are present.||Some mechanical errors or typos are present, but are not overly distracting to the reader. Correct sentence structure and audience-appropriate language are used.||Prose is largely free of mechanical errors, although a few may be present. A variety of sentence structures and effective figures of speech are used.||Writer is clearly in command of standard, written, academic English.|
|5.0 %Paper Format (Use of appropriate style for the major and assignment)||Template is not used appropriately or documentation format is rarely followed correctly. Case Report Part 2 Alzheimer’s Disease DNP810||Appropriate template is used, but some elements are missing or mistaken. A lack of control with formatting is apparent.||Appropriate template is used. Formatting is correct, although some minor errors may be present.||Appropriate template is fully used. There are virtually no errors in formatting style.||All format elements are correct.|
|5.0 %Research Citations (In-text citations for paraphrasing and direct quotes, and reference page listing and formatting, as appropriate to assignment and style)||No reference page is included. No citations are used.||Reference page is present. Citations are inconsistently used.||Reference page is included and lists sources used in the paper. Sources are appropriately documented, although some errors may be present.||Reference page is present and fully inclusive of all cited sources. Documentation is appropriate and citation style is usually correct.||In-text citations and a reference page are complete and correct. The documentation of cited sources is free of error.|
|100 %Total Weightage|
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