How diseases like Parkinson's and Alzheimer's are diagnosed, treated

[00:00:00] Host Amber Smith: . Upstate Medical University in Syracuse, New York invites you to be "The Informed Patient" with the podcast that features experts from Central New York's only academic medical center. I'm your host, Amber Smith. Alzheimer's Disease and Parkinson's disease are the two most common neurodegenerative diseases in the United States, but there are others. And here with me to talk about how these diseases are treated is Dr. Tinatin Chabrashvili. She's a professor of neurology at Upstate and also a professor of neuroscience and physiology, which means in addition to taking care of patients, she's also involved in research. And she's the director of Upstate's neurodegenerative disorder center and Chair of the Alzheimer's therapeutics program committee at Upstate. Welcome to "The Informed Patient," Dr. Chabrashvili.

[00:00:52] Tinatin Chabrasvili, MD, PhD: Thank you for having me, Amber.

[00:00:54] Host Amber Smith: Several diseases are classified as neurodegenerative. Can you help us understand what that means?

[00:01:00] Tinatin Chabrasvili, MD, PhD: Absolutely. Neurodegenerative disorders are a group of diseases characterized by the progressive degeneration and ultimate death of neurons in the nervous system. These diseases primarily affect the structure and the function of the brain, and in some cases, the spinal cord. They may present as dementias, like Alzheimer's disease, as behavior problems, and sometimes as movement disorders. Neurodegenerative diseases, unfortunately, are very common, Alzheimer's and Parkinson's being the prototypic cells of those. There are less common forms of neurodegenerative diseases like dementia with Lewy body, frontotemporal dementia, also known as FTD, corticobasal degeneration, progressive supernuclear palsy.

As neurons die or become dysfunctional, different neurological functions are impaired, leading to a wide range of symptoms. And the symptoms of this disorders vary widely but often include cognitive impairment, motor dysfunction, psychiatric symptoms, and a decline in overall functioning. The specific symptoms depend on the affected areas of the brain and the underlying cause of the disease.

Each of these diseases have unique features, but they also share the common theme of neuronal degeneration, and some of the key features of these disorders include progressive nature and irreversible damage. Many of these diseases are age related. Some of them have a strong genetic component, meaning that they can be inherited from one generation to the next. However, environmental factors and gene environmental interactions can also play a role in the development of these devastating disorders.

[00:03:07] Host Amber Smith: Do these diseases have genetic causes?

[00:03:10] Tinatin Chabrasvili, MD, PhD: In some cases, neurodegenerative diseases have a strong genetic component. Mutations in specific genes can increase the risk of developing these diseases. For example, mutations in the APP Presenilin and Presinilin 2 genes are associated with an increased risk of early onset Alzheimer's disease.

Huntington's disease is caused by a mutation in the HTT gene. And the certain mutations in the LRRK2 gene are associated with an increased risk of Parkinson's disease. However, many cases of Alzheimer's disease and Parkinson's disease are without any known cause of underlying genetic causes.

[00:03:56] Host Amber Smith:

So is there a way to prevent someone from developing a neurodegenerative disorder or to halt the degeneration once it starts?

[00:04:07] Tinatin Chabrasvili, MD, PhD: Well, preventing the development of neurodegenerative disorders or halting their degeneration is a very complex challenge. And there are really no definitive methods to completely prevent these disorders or reverse their progression. However, there are several strategies and approaches that can help to reduce risk and potentially maybe slow down the progression.

This involves lifestyle modifications such as diet, exercise, mental stimulation, social engagement. Cognitive training is very important. That includes brain exercise, management of risk factors and the comorbidities such as blood pressure control, managing chronic disorders such as diabetes, maintaining healthy cholesterol level, avoiding environmental toxins.

Also, some medications may help to manage symptoms. And, this could be potentially helpful to improve quality of life.

[00:05:16] Host Amber Smith:

Well, let's talk about diagnosis. Do patients come to the neurodegenerative disorder center with the diagnosis already, or do they come to the clinic to obtain a diagnosis?

[00:05:28] Tinatin Chabrasvili, MD, PhD: There are various scenarios regarding the diagnosis. Neurogenerative diseases are unique in that one type of disease may mimic another, and also the same underlying pathology in the brain may present as two very different clinical syndrome. Combining all of that with the fact that especially early on, some of the thinking problems may be hard to distinguish from just normal aging because of neurodegenerative diseases primarily are diseases of aging population.

For all of those reasons, it may be difficult to diagnose these conditions either early on, or it may be difficult to put a name to these conditions unless one refers to a specialty clinic, such as what we have at our neurogenerative disorders center.

The specific circumstances often depend on patients' medical history, symptoms, and prior interactions with the healthcare providers. Some patients may come to us with confirmed diagnosis. They may have been previously diagnosed by primary care physicians, previous neurologists, or other specialists. And they are seeking specialized care, treatment, or additional evaluation.

Other patients may come to the center seeking a diagnosis for their neurological symptoms. They may have been experiencing cognitive, motor or other neurological changes, and they are looking for a comprehensive evaluation to determine the underlying cause of their symptoms.

They may come for second opinions. In some cases, individuals already have a diagnosis from another healthcare provider, but they may seek second opinion from the experts. They may want to confirm the diagnosis, or explore different treatment options. Some of the individuals with a family history of neurogenerative disorders may come to our center for genetic counseling and testing to assess their risks and potentially make informed decision about their health.

Some patients who already established care in our center, they come for a follow-up appointment in continuous care and management. Some patients interested in participating clinical trials or research studies related to neurodegenerative disorders may also visit our center to explore different opportunities for involvement.

[00:08:16] Host Amber Smith: This is Upstate's "The Informed Patient" podcast. I'm your host, Amber Smith. I'm talking with Dr. TInatin Chabrashvili. She's a professor of neurology and neuroscience and physiology at Upstate and the director of the neurodegenerative disorders center.

Can you tell us about some of the tests that are most often done at the center?

[00:08:39] Tinatin Chabrasvili, MD, PhD: Well, typically it involves a total medical history review, neurological examination, cognitive assessments, neuro imaging studies such as MRI or PET scans and sometimes genetic studies. The specific tests performed may vary based on the suspected conditions and the individual's symptoms.

Some of the tests and the assessments that are conducted are obviously neurological examination, including cranial nerves, cognitive testing, assessing reflexes, muscle strength, balance and gait. We may refer them to a neuropsychologist for neuropsychological testing, to obtain more structural, cognitive evaluation of memory, language, problem solving, and other aspects of mental performance.

We almost always obtain magnetic resonance imaging that helps us to take a look at the brain structure and helps us to identify abnormalities such as brain atrophy, strokes, or lesions. We may order FDG PET (fluorodeoxyglucose-positron emission tomography) scan that can be used to detect metabolic changes, and it has been used in such conditions as Alzheimer's disease or frontotemporal dementias.

We may order amyloid imaging to help us in diagnosing Alzheimer's disease. Another test that is very important is a lumbar puncture that is performed to collect the cerebrospinal fluid, which is analyzed for presence of biomarkers associated with certain neurodegenerative disorders such as Alzheimer's disease, Creutzfeldt-Jakob disease, or autoimmune dementias.

And, we may get genetic testing, to identify specific genetic with hereditary neurodegenerative diseases such asHuntington's. Or if someone has a strong family history of early onset Alzheimer's disease from generation to generation. Blood tests can help us to rule out other potential causes of neurological symptoms such as vitamin deficiencies, thyroid disorders, or and even autoimmune dementias.

Our field is very excited now to have a first blood plasma biomarker that can help us in diagnosing Alzheimer's disease. In some cases we may order dopamine transporter imaging that is also known as DaTscan, and it helps us to distinguish Parkinsonian syndromes from other non Parkinsonian diseases that may mimic Parkinson's disease or related disorders. In certain situations we even may order autonomic testing, which is very helpful for patients with multisystem atrophy or Parkinson's disease.

[00:11:45] Host Amber Smith: Well, I understand that no cures exist for neurodegenerative diseases, but what can you tell us about treatments and therapies in terms of, let's start with Alzheimer's, or use that as an example. Are there drugs that are effective for Alzheimer's at this point?

[00:12:02] Tinatin Chabrasvili, MD, PhD: At this time, there are no known cures for neurodegenerative diseases, including Alzheimer's disease. But there are different treatments and therapies aimed at management of the symptoms, improving quality of life and slowing down disease progression in some cases.

Our medical community is very pleased that FDA ( Food and Drug Administration) has granted full approval of lecanemab-irmb amyloid antibody for treatment of Alzheimer's disease patients with mild cognitive impairment or mild dementia. This decision came after FDA reviewed positive results from phase 3 randomized clinical trials. Lecanemab-irmb works by lowering the level of beta amyloid protein in the brain. It slows the rate of cognitive and functional decline, but it does not reverse in the disease. What we found out from the phase 3 study is that the group treated with lecanemab-irmb had a reliable, slower decline on cognitive tests and questionnaires, assessing functions, functioning in daily activities than the group that received placebo. However, the magnitude of the effect is likely to be different from person to person.

I also want to point out that we have symptomatic therapies that have been around for quite a few years. These are cholinesterase inhibitors such as donepezil, rivastigmine, and an NMDA receptor antagonist, which is also known as memantine. They are prescribed to manage cognitive symptoms. Physical therapy, occupational speech therapy, cognitive rehabilitation. These are also quite important measures in the overall management of these patients.

[00:14:12] Host Amber Smith: So let me ask you, once a person is diagnosed with a neurodegenerative disorder, do they keep coming to the center for their care, or do they still go to the primary care doctor, or do you take over all of their care for them?

[00:14:29] Tinatin Chabrasvili, MD, PhD: Well, the post-diagnosis care and management it's very individualized. During the initial test, we perform very thorough assessment. During second appointment, we go over the test results, and we try to finalize our opinion and come up with the multi multidisciplinary care plan. We work very closely with our primary care physicians' managing of these patients.

So, some of these patients come every six months or every year for a follow-up, but some of them, let's say with Parkinson's disease, they may have more frequent visits while we are titrating their medications.

[00:15:15] Host Amber Smith: Well, it's good to know about the neurodegenerative disorder center, Dr. Chabrashvili, and I appreciate you making the time to tell us about it.

[00:15:24] Tinatin Chabrasvili, MD, PhD: Thank you for having me.

[00:15:26] Host Amber Smith: My guest has been Dr. Tinatin Chabrashvili. She's a professor of neurology and also neuroscience and physiology at Upstate, and she's the director of the neurodegenerative disorder center and chair of Alzheimer's therapeutics program committee at Upstate.

" The Informed Patient" is a podcast covering health, science and medicine, brought to you by Upstate Medical University in Syracuse, New York, and produced by Jim Howe. Find our archive of previous episodes at upstate.edu/informed. This is your host, Amber Smith, thanking you for listening.