In the past decade, there has been increased information and knowledge that has enhanced physicians’ understanding of and potential management for neurodegenerative disorders, including Alzheimer’s disease, Parkinson’s disease and Huntington’s disease. Research has shown that these disorders are often characterized by a presymptomatic phase, during which neuronal degeneration is likely occurring, but before clinical symptoms appear. Early detection of these slowly progressing diseases offers the promise of presymptomatic diagnosis and could ultimately lead to disease-modifying medications that could be used early in disease, perhaps during the presymptomatic period.1
GE Healthcare’s MIND (Making an Impact of Neurodegenerative Diseases) campaign aims to spread awareness of neurodegenerative diseases by sharing key information and helping physicians work toward viable solutions for patients. Being diagnosed with a neurodegenerative disease, such as Alzheimer’s, Parkinson’s or Huntington’s diseases can be traumatic and stressful for patients, their families and friends. Unfortunately, many diagnoses are made when the patient is in an advanced stage.
For patients who suspect they may have Parkinson’s disease (PD), or other movement disorders, a physician’s value in knowing additional information may lead to appropriate treatment. For these patients, it’s a matter of finding out whether their symptoms are a result of PD or another associated disorder like essential tremor. PD is a diagnosis under the umbrella of Parkinsonian syndromes, along with parasupranuclear palsy (PSP), multiple system atrophy (MSA) and corticobasalar degeneration (CBD). Moreover, it is sometimes clinically challenging to differentiate between Parkinsonian syndromes and essential tremor.
Knowing the status of dopamine transporters in the brains of adult patients with suspected Parkinsonian syndromes provides additional clinical information for physicians to use in diagnosis. Further, a correct diagnosis may help prevent the wrong treatment while knowing the correct diagnosis may help maximize benefit from the appropriate treatments.
Additionally, for people who suspect they may have Alzheimer’s disease, an early and accurate diagnosis may benefit patients and their families by helping them identify appropriate treatment options, plan for the future and find outside sources of assistance. The Alzheimer’s Association lists 10 signs of potential Alzheimer’s disease. It may be important to visit a doctor if these symptoms are suspected because they may not be specific to Alzheimer’s disease.
A major goal of clinical research in Alzheimer’s disease is to develop tools that will improve early detection that could move diagnosis earlier in the disease course. The potential benefits include identification of people at-risk, enhancing the current diagnostic tools, improving the accuracy of diagnosis, enriching subject populations in clinical trials and possibly enabling earlier and accurate treatments.
Currently, AD is diagnosed through clinical examinations (i.e., medical history, mental status testing and physical and neurological exams). A definitive diagnosis can only be confirmed through histopathological identification of core features, including beta amyloid plaques and neurofibrillary tangles, in post-mortem brain samples.2 Non-invasive tests to detect these characteristics may not by themselves tell if someone has Alzheimer’s disease, but they may help rule out the disease at that point in time.
The ability to rule out Alzheimer’s disease may help the physician decide that a patients’ cognitive decline may not be Alzheimer’s disease – which in turn may lead to further testing, and a more precise diagnosis and treatment protocol. Also, there are tests that can help show memory loss, which may allow physicians to determine if a patient’s symptoms are consistent with Alzheimer’s disease.
Additionally, “the value of knowing” may help patients, their families and friends prepare for their end-of-life care. In a recent survey sponsored by GE Healthcare and conducted by the Working Mother Research Institute, 51 percent of caregivers wished their loved one with Alzheimer’s disease had been diagnosed at an earlier stage, whereas 84 percent of survey participants stated that they would like to be diagnosed early if they develop the disease. Some reasons for wanting to be diagnosed early were to spare their families the responsibility of making financial and medical decisions on their behalf, as well as being able to participate in decision-making about medical options for treatment and care.