Yorki 1

Sosie Yorki
Mrs. Greene
Capstone
3 November 2016
Current and Future Treatments for CMT and Alzheimers
One goal for scientific researchers is to improve the living conditions of people struck by
various diseases. To develop a new drug, scientists synthesize it in their lab, test it on animals
numerous times, and finally test it on humans to prove it is safe. This extensive process prevents
many drugs from reaching pharmacies, and even when a new drug is approved, it could still be
proven ineffective years later. CMT and Alzheimers disease (AD) have approved treatments but
not cures, making premature death by the disease seem inevitable. Patients of CMT and AD are
psychologically haunted by their diseases, but current and future treatments are constantly
developing to make the patient experience, starting from diagnosis, less traumatic.
Being a victim of a neurodegenerative disease is mentally and physically debilitating.
Although CMT doesnt affect patients mentally like Alzheimers does, it still drastically changes
the lives of those who have it. In a conversation back in September 2016 with Benjy Hershorn, a
lifelong CMT patient and Vice President of the CMT Association in Houston, he described
having CMT as a long and uncertain journey. Patients struggle completing everyday tasks such
as walking up a flight of stairs and face isolation from the able-bodied people around them. Like
those with CMT, Alzheimers patients lives begin to change once they are diagnosed, which is
emotional in itself. Families of the diagnosed prefer to not tell them of their diagnosis because
families fear the patient will spiral into depression and lose their will to live.1 Knowing that

Yorki 2
Alzheimers is a long, painful process only furthers the depression.2 Scientists are constantly
striving to improve the patients experience by either developing treatments or drugs.
Treatments for CMT currently include rehabilitation and corrective surgery, which treat
symptoms and are not perfect remedies. Future research looks into new therapies that will
minimize imperfections and cure the disease as a whole. In rehabilitation, physical therapy has
high risks for patient injury and could worsen muscle weakness if the patient is overworked.3
Corrective surgery normalizes high-arched feet, hand deformities, and scoliosis,3 but surgery
could go wrong and does not work for all patients. When I conducted field work with a genetic
counselor, I was able to consult with patients and meet one whose surgical procedure went
wrong. Her surgery was supposed to lower the arch in her foot, but her arch ended up
heightening and she began experiencing more pain than before. With a possibility of hurting
patients by rehabilitation or surgery, scientists are looking towards gene therapy, where the
problematic mutation that causes CMT is removed or suppressed. However, getting the foreign
genes past the bodys immune system and the chance of adversely inducing other genetic
diseases are obstacles to the development of gene therapy. 3 Current advancements in technology
today allow for gene therapy to become a reality, but the modification of DNA raises questions
about ethics. Therefore, this new therapy receives little support from the public and the Food and
Drug Administration (FDA), which approves medications before they can be prescribed.
Treatments for Alzheimers, such as memantine, lessen the symptoms of the disease, but
scientists today are testing natural substances that can cure Alzheimers with less side effects.
Memantine works by preventing glutamate, an overproduced neurotransmitter that signals for
neurons to fire rapidly, from overexciting nerve cells and inducing neurodegeneration by
blocking its receptors on each neuron. Memantine has proven to slow dementia and, when

Yorki 3
combined with other drugs such as donepezil, maintain cognition.4 In addition, AD patients find
memantine tolerable and its side effects (which are headaches, constipation, and dizziness) mild.4
Although memantine makes having Alzheimers more tolerable, patients still suffer greatly as
they forget their family and friends and slowly lose control of their body. Therefore, scientists
are looking into microtubule (MT) stabilizing agents as a cure for Alzheimers. In AD,
deformities in the tau protein tangle up microtubules, which are the train tracks for
neurotransmitters. MT-stabilizing agents promote order in microtubules by removing tau from or
changing the structure of MTs. Since MT-stabilizing agents come from natural sources such as
tree sap and bacteria, they are not likely to cause harsh side effects and could prevent or cure
AD.5 Scientists struggle when trying to make MT-stabilizing agents into drugs because they must
ensure the treatment only targets front lobe neurons. In addition, scientists have to experiment
with what stage of AD is most effective to start prescribing MT-stabilizing drugs. After MTstabilizing agents are tested on humans and proven safe, it will still face issues with getting
approval from the general public and the FDA.
With basic knowledge of science, some of the general public sees scientific research as
playing God and are fearful towards it. With support for new scientific breakthroughs, the
people will show desire for change and can influence the FDA to approve new treatments and
cures. Although the future of treatments for CMT and Alzheimers, such as gene therapy, may
seem scary, change must be welcomed in order to advance society. People must vocalize their
support, spread it to others, and show that that they arent afraid.

Yorki 4
References
1. Maguire CP, Kirby M, Coen R, Coakley D, Lawlor BA, ONeill D. Family members'
attitudes toward telling the patient with Alzheimer's disease their diagnosis. British
Medical Journal. 1996; 313: 529-530. doi:
http://dx.doi.org/10.1136/bmj.313.7056.529.
2. Gubrium, J. Structuring and Destructuring the Course of Illness: the Alzheimers
disease Experience. Sociology of Health and Illness. 2008; 9(1): 1-25. doi:
10.1111/j.1467-9566.1987.tb00034.x.
3. Schenone A, Nobbio L, Bragadin MM, Ursino G, Grandis M. Inherited Neuropathies.
Current Treatment Options in Neurology. 2011; 13: 160-179. doi: 10.1007/s11940011-0115-z.
4. Bajic V, Milovanovic ES, Spremo-Potparevic B, et al. Treatments of Alzheimers
disease: Classical Therapeutic Approach. Current Pharmaceutical Analysis. 2016;
12(2): 82-90. doi: 10.2174/1573412911666150611184740.
5. Ballatore C, Brunden K, Huryn DM, Trojanowski JQ, Lee V, Smith AB. Microtubule
Stabilizing Agents as Potential Treatment for Alzheimers Disease and Related
Neurodegenerative Tauopathies. Journal of Medical Chemistry. 2012; 55(21): 89798996. doi: 10.1021/jm301079z.