{"id":49025,"date":"2022-11-18T07:02:11","date_gmt":"2022-11-18T07:02:11","guid":{"rendered":"http:\/\/nationaltimes.pk\/eng\/?p=49025"},"modified":"2022-11-18T07:02:11","modified_gmt":"2022-11-18T07:02:11","slug":"dementia-definition-and-genetic-risk","status":"publish","type":"post","link":"https:\/\/nationaltimes.pk\/eng\/2022\/49025\/","title":{"rendered":"Dementia: Definition and genetic risk"},"content":{"rendered":"<p>ISLAMABAD, (National Times) &#8211; Dr. Hilary Guite: Let\u2019s start with an overview of dementia and its causes.<\/p>\n<p>Dr. Kamar Ameen-Ali: I always think that it\u2019s good when we are discussing dementia to start off with a definition of what we mean by it. Often you might hear people use it interchangeably with things like Alzheimer\u2019s disease, but they\u2019re very distinct things.<\/p>\n<p>Dementia, we kind of describe it as an umbrella term. It describes a set of symptoms, it\u2019s a clinical syndrome \u2014 those symptoms are often associated with memory impairment. But for a diagnosis of dementia, you also have to have an impairment in one or more other cognitive domains as well \u2014 this might be personality, it might be visual-spatial skills, for example.<\/p>\n<p>And as I mentioned, dementia as a clinical syndrome is distinct from something like Alzheimer\u2019s disease, which is a type of brain disease that leads to dementia.<\/p>\n<p>Dr. Guite: Is dementia hereditary?<\/p>\n<p>Dr. Ameen Ali: It depends on what brain disease we\u2019re talking about. So if we\u2019re going to talk about Alzheimer\u2019s disease \u2014 which I think is a good idea, because it\u2019s the most common brain disease that leads to dementia \u2014 there are some types of Alzheimer\u2019s disease that are hereditary and some types that aren\u2019t.<\/p>\n<p>The most common type of Alzheimer\u2019s disease is what we call sporadic Alzheimer\u2019s disease, and that counts for 97% of Alzheimer\u2019s disease cases. So 3% of cases of Alzheimer\u2019s disease will have that known genetic origin, and this is caused by genetic mutations.<\/p>\n<p>So only a small percentage of actual Alzheimer\u2019s disease cases have got that genetic, known hereditary link.<br \/>\nThe real-life impact<\/p>\n<p>Dr. Guite: Thank you. So Paula, you\u2019ve been looking after your mother with dementia alongside working. Can you tell us what you first noticed?<\/p>\n<p>Paula Field: Yes, I am. I think my sister and I first noticed that there were some issues with her memory after my father had died. I think that she had started to develop some form of dementia before that, but [our parents] sort of helped each other out. And I think [our father] helped her through a lot of those daily things.<\/p>\n<p>After he died, I think it became much more obvious [that something was wrong], but, you know, at that stage, we weren\u2019t sure whether [her symptoms were] sort of a grief thing. But it gradually progressed. And it probably took us about 6 months or so after he died to realize that, you know, we probably did need to take her to the doctor, and to find out what was happening.<\/p>\n<p>Dr. Maria Cohut: Paula, how did this affect you and your sister financially and during day to day life?<\/p>\n<p>Paula: Well, I think in the early days, you could have a conversation [with our mother]. [My sister and I] were both working full-time, we\u2019d go visit weekends, so we were there really regularly. In terms of financial impact, at that stage, there wasn\u2019t very much, we just carried on as usual. We didn\u2019t have any [additional] carers or anybody at that stage, we used to just go in as often as we could.<\/p>\n<p>Then, once it got to the point when we had to take her to the doctors for her first memory test, and once the results came back, that\u2019s when we had to start thinking about [arranging] more care. And that\u2019s resulted in my sister having to take a day off a week from her work and spend two afternoons a week with my mom.<\/p>\n<p>She has been doing that for nearly 4 years now. And we have other carers going in about twice a day now want to make sure that she gets up, and give her some lunch and the other one in the evenings, to give her some dinner. They do that about 4 days a week, and we pick up the rest.<\/p>\n<p>How doctors diagnose dementias<\/p>\n<p>Dr. Guite: What sorts of scans and diagnostic process happens nowadays?<\/p>\n<p>Dr. Ameen-Ali: There are different types of scans that can be done, [such as] PET scans and MRI scans.<\/p>\n<p>In terms of how well they can contribute to the diagnosis of brain diseases? Questionable, I think, because if we\u2019re looking for brain changes that are associated with Alzheimer\u2019s disease, for example, the question is how well can we see that pathology in the brain in life. Something like Alzheimer\u2019s disease can actually only be diagnosed post mortem, when we can confirm that those pathological changes in the brain are actually there.<\/p>\n<p>But something like a PET scan or a CT or an MRI scan, they can see whether there is that general atrophy in the brain, and that is something that we would expect to see in something like Alzheimer\u2019s disease, particularly atrophy around the hippocampus, which is the part of the brain that is responsible for different memory processes.<\/p>\n<p>So to a certain degree, these brain scans can help with the diagnosis of a certain brain disease that is leading to dementia, but we have to remember that it can only ever be confirmed post mortem.<\/p>\n<p>Dr. Guite: You mentioned there atrophy, what does that mean?<\/p>\n<p>Dr. Ameen-Ali: Atrophy is basically where the brain tissue degrades. If you were to see a brain that had atrophy, you\u2019d see essentially shrinkage of certain areas of the brain.<\/p>\n<p>Dr. Guite: My understanding is that the new PET scans can look at how the brain metabolizes nutrients, like sugar, and that they can show whether or not there are are some some proteins that get misfolded. Can you just explain what those proteins are \u2014 amyloid and tau \u2014 and how important they are?<\/p>\n<p>Dr. Ameen-Ali: Amyloid and tau are the kind of characteristic pathological features of Alzheimer\u2019s disease. Amyloid is a protein that will aggregate and clump together in the brain and form plaques, and that\u2019s what we see in Alzheimer\u2019s disease.<\/p>\n<p>These plaques then disrupt neuronal cell function, and then that leads to a lot of those cognitive issues that we talked about earlier.<\/p>\n<p>There\u2019s also tau, which is [another] protein in the brain. Again, it\u2019s another characteristic pathological feature of Alzheimer\u2019s disease. Normally, it\u2019s a protein within axons of nerve cells, and it helps to form what we call microtubules that are responsible for transporting nutrients within the cells.<\/p>\n<p>What we see in Alzheimer\u2019s disease, is that it aggregates into these tangles, and it disrupts cell function in that way, and it affects how cells communicate with one another.<\/p>\n<p>Changes in personality and behavior<\/p>\n<p>Dr. Guite: Paula, after that initial phase and the the memory loss, what else did you start to notice [in your mother]?<\/p>\n<p>Paula: Well, we noticed that she became quite isolated. She didn\u2019t leave the house, she did start to leave her peas on the cooker. And I think, you know, that was the point where we started to go, \u201cEek, this is getting quite serious.\u201d<\/p>\n<p>She still has some sort of instinctual habit, so she\u2019ll still switch off the switches at the end of the day. That\u2019s something that she\u2019s done forever. But pretty much everything else\u2026<\/p>\n<p>She knows there\u2019s a fridge in her house, and she knows that there should be something on the shelves, and she will put stuff in the fridge. It could be a packet of crisps or it could be a cup. She has this sort of visual memory of the fridge, she sort of knows what it\u2019s for, but she doesn\u2019t quite know how to use it.<\/p>\n<p>But that\u2019s about it. She doesn\u2019t feed herself. If she won\u2019t drink water, she certainly couldn\u2019t take medicines. She does not wash [on her own]. If we ask her to wash her face or something, she\u2019s quite canny, she\u2019ll go in the bathroom, close the door, won\u2019t let you in, and then come out again.<\/p>\n<p>She still believes that she cooks her own dinner, she still believes that she can do all the things that she\u2019s always done. I don\u2019t think it\u2019s denial, necessarily. I think she just [thinks that] it\u2019s happened, therefore, she must have done it.<\/p>\n<p>She has no idea who myself and my sister are \u2014 she recognizes us [as familiar faces], but she doesn\u2019t know who we are. She has no knowledge of people going in every day to help her.<\/p>\n<p>She\u2019s not very active, she pretty much sits on her chair everyday with the TV on and looks into space.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>ISLAMABAD, (National Times) &#8211; Dr. Hilary Guite: Let\u2019s start with an overview of dementia and its causes. Dr. Kamar Ameen-Ali: I always think that it\u2019s good when we are discussing dementia to start off with a definition of what we mean by it. Often you might hear people use it interchangeably with things like Alzheimer\u2019s [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":49028,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[13],"tags":[],"class_list":["post-49025","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-tourism","entry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Dementia: Definition and genetic risk - Nation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/nationaltimes.pk\/eng\/2022\/49025\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Dementia: Definition and genetic risk - Nation\" \/>\n<meta property=\"og:description\" content=\"ISLAMABAD, (National Times) &#8211; Dr. Hilary Guite: Let\u2019s start with an overview of dementia and its causes. 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