I think DLB is a difficult diagnosis to make primarily because it can present in so many different ways. Until very recently we did not have great biomarkers for it and patients can present not just to neurologists but can also present to many other professionals, starting from geriatrics to geriatric psychiatrists, and so they have multiple pathways of getting to us. In terms of clinical presentation, their challenges include that they can have a conglomeration of sleep, neuropsychiatric symptoms, as well as motor symptoms, as well as cognitive fluctuations...
I think DLB is a difficult diagnosis to make primarily because it can present in so many different ways. Until very recently we did not have great biomarkers for it and patients can present not just to neurologists but can also present to many other professionals, starting from geriatrics to geriatric psychiatrists, and so they have multiple pathways of getting to us. In terms of clinical presentation, their challenges include that they can have a conglomeration of sleep, neuropsychiatric symptoms, as well as motor symptoms, as well as cognitive fluctuations. So the four criteria for DLB, as per McKeith, are cognitive fluctuations, REM sleep behavior disorder, recurrent visual hallucinations, and parkinsonism. The challenge is putting it all together and asking all the right questions, and frequently we do not ask the right questions. For each different criterion, there are their own challenges, so for example, REM sleep behavior disorder can show up several years prior to people ever having any symptoms and people may not seek attention or medical attention for their REM sleep behavior disorder ahead of time; they may not think anything is wrong with them. Second, for cognitive fluctuations, it’s extremely difficult to detect it because people can have those fluctuations minute to minute, day to day, hour to hour, or month to month. So it can be, and we don’t have good tests that detect these things. So we are sort of asking generic questions and looking for specific answers. So it requires a little bit of training and thought. Recurrent visual hallucinations are quite common in all types of dementia, so having it on its own is not sufficient, and parkinsonism can be induced by drugs, so having a full picture is extremely important in early recognition of DLB. We are starting to move towards what we call prodromal DLB, so starting to identify people before their cognitive impairment starts to impact their function, and that is a change in the way we’re thinking about DLB and really all dementias to some extent. Biomarkers, we don’t have specific biomarkers; we have indicative biomarkers, so biomarkers that help us with the diagnosis but don’t necessarily clinch it at all times, meaning we cannot detect pathology like we can with Alzheimer’s disease. We have amyloid PET scans, CSF, and non-blood tests. Very recently, we have had some CSF testing for alpha-synuclein as well as the skin test. So those are starting to get incorporated into clinical practice, but we need further autopsy validation, we need better clinical pathological correlation, and we have to find out how and when and what type of prevalence do these biomarkers truly help us in combination with what type of clinical features. So those are all things that are still up in the air that we need to figure out better answers for to help our patients.
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