While they’ve been known to medical practitioners for thousands of years, we’ve only just begun to understand these complex conditions and their effects. Thankfully, new advancements and treatments are accelerating that pace.
For thousands of years, medical practitioners have been confounded by the mysteries that surround neurological diseases. Today, in too many instances, their cause remains a puzzle, the symptoms still misleading, and cures still slow in coming.
At stake are the lives and futures of millions worldwide. Diseases such as epilepsy, multiple sclerosis, dementia, Parkinson’s and Huntington’s, amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease), and many more can now be treated with significant advances in medications and surgery. But so much more remains to be discovered.
Epilepsy has been recognized as a neurological disease for more than 4,000 years. It can be traced back to a 4,000-year-old Akkadian tablet found in Mesopotamia. Inscribed on it is a description of a person with “his neck turning left, hands and feet are tense, and his eyes wide open, and from his mouth froth is flowing without him having any consciousness.” Nearly a millennium later, the Late Babylonians wrote a diagnostic manual entitled “Sakikku,” which included texts describing epilepsy.
Despite this condition’s long history, questions remain, beginning with why humans develop it. Today, the Centers for Disease Control and Prevention (CDC) estimate that more than 3 million adults and 500,000 children in the United States have active epilepsy.
Dr. Esmeralda Park, medical director of EEG services and adult epilepsy program with the AMITA Health Neurosciences Institute, believes epilepsy’s origins are a question for the ages.
“Researchers would love to know how and why epilepsy develops in the brain,” she says. “We still don’t know what causes it and why it develops in so many different forms. An educated guess is that epilepsy is genetic in origin, but not necessarily inherited. In some people it is caused by a tumor or infection, stroke, or a traumatic injury to the brain.”
Confusing the issue is the fact that epilepsy comes in a wide variety of types, almost like the 31 flavors of Baskin Robbins ice cream, says Park. The most recognizable outward symptom is what has been previously called a grand mal seizure.
“We now call these ‘generalized convulsions’ or ‘tonic-clonic,’” Park explains. “The person stiffens, falls and shakes uncontrollably. He or she loses consciousness and does not remember what happened during the episode, which will typically last for a few minutes.”
But in other epileptic episodes, the patient seems to zone out, as if on pause. Park says trying to track the origin within the brain is difficult because the stimulus can come from one point or multiple points.
“Once we have diagnosed epilepsy, we evaluate the patient’s symptoms thoroughly and determine which medications will best address them,” Park says. “So many other factors need to be taken into consideration, including the patient’s gender, age, underlying conditions and the medications they’re using. Some patients are using a holistic approach to controlling the epilepsy, and we need to know exactly what they are taking as well as how.”
With the right combination of medications, about 70 percent of patients can manage their epilepsy successfully, Park says.
“If the doctors do a thorough assessment, and the diagnosis is accurate, control is achievable,” Park adds.
“Sometimes, all it takes is one medication in the appropriate dosage. Other patients require a combination ofmedications. However, 30 percent are refractory, meaning their epilepsy does not respond to medications. In their cases, we look for alternative ways to treat. Surgery is one option.”
Park says successful surgery depends on the type of epilepsy and where in the brain the epileptic impulses are located.
“We must pinpoint exactly where in the brain, hopefully narrowing it down to one site,” she adds. “Then we determine if it can be surgically treated without causing harm.”
Asked about the use of marijuana to treat epilepsy, Park says that the majority of patients do not derive any improvement in seizures from smoking it. “There is currently only one pharmaceutical-grade derivative of cannabis, cannabidiol, that has Food and Drug Administration (FDA) approval for use in three specific epilepsy syndromes, but it doesn’t guarantee seizure freedom.”
Adding to the challenge of treating epilepsy, Park says there’s also some variation to the effect on patients over time.
“Some children manifest epilepsy at an early age and seem to mature out of it,” Park adds. “However, it can return at a later stage in life.”
While epilepsy develops in one way, other neurological diseases have significantly different effects on the human body.
Multiple sclerosis (MS) was first recognized as a specific neurological disease in the mid-1800s in France. Prior to that, the symptoms were noticed but were vague enough that it was difficult to pinpoint a definition. The National MS Society reports that about 2.3 million people are diagnosed with MS globally, with about 950,000 of those in America.
Dr. Edith Graham, an MS specialist with Northwestern Medicine who treats adults at Northwestern Memorial Hospital and Lake Forest Hospital, says more than 70 percent of MS patients are women, most of whom are first diagnosed in their 20s and 30s.
“In general, there is no one thing people can do to prevent MS,” she adds. “Maintaining a proper weight and not smoking helps. Vitamin D deficiency is a well-studied risk factor for MS. One interesting fact is that more MS patients live in the northern half of the United States where they don’t receive as much sunlight. In general, everyone should take 2,000 units of Vitamin D every day for good health.”
Graham says MS is an auto-immune disease whose root cause is still unknown. When a patient develops MS, inflammation in the brain and spinal cord erodes the protective myelin coating on nerve fibers and allows plaque-like lesions to form, breaking down neural connections. This, in turn, affects the patient’s vision, balance and sense of touch.
“For patients, symptoms come out of the blue. Vision is often the first sign, with the patient developing reduced vision in one eye that comes on slowly over a period of 24 hours until much of the vision in that eye disappears,” Graham explains. “Weakness in the hands and feet also comes on slowly, causing the patient to drop things and trip easily. Again, this happens over a period of 24 hours.”
Patients may come into the emergency room thinking they are having a stroke, only to be diagnosed with MS.
“With a stroke, symptoms happen within minutes, while with MS it is a much slower process,” Graham says.
“They may complain of numbness in their face, arms, legs and chest. They describe what we call the MS hug – acorset-like pressure around the chest or abdomen. Others tell us they experience what feels like electrical shocks when they bend their necks or move their shoulders.”
Double vision, loss of bladder control and staggering are other symptoms, Graham adds. It depends on where in the brain or spine the lesions have formed. Once diagnosed, MS patients take medications to reduce the symptoms and hopefully induce remission.
“Today, we have 22 Federal Drug Administration-approved methods that treat MS,” Graham adds. “These may be in the form of daily oral medications, injectable drugs used daily or once a month, or infusions either monthly or every six months. Left untreated, MS can cause relapses on an annual basis. With treatment, it is possible for patients to live a near-normal life.”
Asked if the number of MS patients has increased, Graham says it is difficult to say.
“Our diagnostic methods are so much better now that it may be that we are finding more patients who might not otherwise have been diagnosed,” she adds.
MS is not a fatal disease. With appropriate treatment, MS patients can live long, productive lives and do most of the things they enjoy, says Graham. Sadly, the same cannot be said of all neurological diseases.
Dementia has been recognized in humans almost throughout our existence. The ancient Greeks and Romans were familiar with it, and in fact the term is derived from the Latin word “demens,” which was used to describe persons being out of their minds. In modern times, dementia is known as an umbrella condition that covers a multitude of similar cognitive dysfunctions including Alzheimer’s. And like so many other neurological diseases, its origins continue to puzzle medical professionals.
Dr. Andrea Dellaria, an MS and dementia specialist who treats patients at Advocate Good Shepherd Hospital in Barrington, says about 6 million Americans have been diagnosed with Alzheimer’s.
“When you count in other types of dementia, that means there are significantly more people affected by the condition,” Dellaria adds. “Early onset dementia is diagnosed in patients 65 and younger. And these patients are more likely to have developed the disease as the result of a family history. Some genes do carry the risk for development of certain types of dementia, but that does not necessarily mean the person will go on to develop dementia. With older patients, the cause is usually not related to a family history.”
Early symptoms can include short-term memory loss including not being able to remember recent conversations or appointments. The person may become disoriented in what should be familiar surroundings, or they may become lost while driving, walking, or being in large areas such as shopping malls.
“Other symptoms are more subtle,” Dellaria says. “They may have lapses in judgement or withdraw from social activities. They can become depressed.”
It’s rare to diagnose dementia with the first patient visit.
“We are not likely to have answers that quickly,” she adds. “We conduct blood tests to determine if the patient has what we call a reversible dementia, one that is caused by a thyroid condition or a vitamin deficiency, particularly Vitamin B12. If dementia symptoms are related to one of these problems, they can be reversed.”
Other dementia testing may include a brain MRI to see if the brain has shrunken or shows evidence of a stroke.
Dellaria explains that vascular dementia is a general term describing problems with thought processes that have been caused by brain damage from impaired blood flow to the brain.
Evaluation using the Montreal Cognitive Assessment (MoCA) test along with other advanced diagnostic methods performed by a neurological psychologist may be necessary to help pinpoint not only the type of dementia but also how far the disease has progressed.
“Once a patient has been appropriately diagnosed, it is possible to slow the dementia’s progress,” Dellaria adds. “We have several medications available for treatment of Alzheimer’s that have been available for decades. Recently, the FDA approved an infusion therapy for use in mild dementia related to Alzheimer’s disease (aducanumab).”
As for prevention, there are some lifestyle modifications that might prevent or delay the onset of dementia, in some cases.
“We can start with sufficient sleep, between seven and eight hours nightly,” Dellaria adds. “Physical and mental exercise can lower the risk. Other factors such as high blood pressure, diabetes and cholesterol control may also influence the chances of developing dementia.”
After it’s been diagnosed, one way to slow down dementia’s progress involves playing games to keep the brain more active. Dellaria says starting a new hobby or getting involved in volunteering or other activities that challenge the patient seem to help.
“There is still no cure for dementia,” Dellaria says. “It progresses differently with each patient, but in the end, they do not recover. Patients may end up needing a high level of support in the form of 24/7 care. Our goal as health care professionals is to obtain an accurate diagnosis so that we can help support patients and their families through this process, as well as providing them with access to the most up-to-date information and treatment options available.”
Progress is steadily being made to unwrap the mysteries shrouding neurological diseases. With innovative diagnostic and treatment advances, plus intense research into the causes, the day may come when humanity will no longer suffer the pain, debilitation and loss these conditions bring.