Neurological disorders are conditions that affect the brain as well as the nervous system. They can result in symptoms that are similar to those which are found in progressive forms of dementia, but there are also key differences in symptomatology, treatment options, and prognosis. In contrast to common forms of progressive dementia such as Alzheimer’s disease, these disorders can also be caused by environmental factors. Here we’ll take a look at a few rare neurological disorders.

3 Rare Neurological Disorders

Creutzfeldt-Jakob Disease (CJD)

A rare brain disorder that affects about one in every million people worldwide each year, CJD belongs to a family of diseases known as the transmissible spongiform encephalopathies, or TSEs. “Spongiform” refers to the way the brain fills up with microscopic swellings that give the appearance of holes, like a sponge. CJD and other TSEs are believed to be caused by infectious proteins called prions that become misfolded. Scientists believe that the presence of misfolded prions can trigger normal proteins to misfold as well, causing a chain reaction. These abnormal prion proteins tend to clump together, which is believed to be related to the brain damage.

Symptoms usually begin after age 60, and most people die within a year of onset. The symptoms of CJD can vary depending on the subtype of the disease, but common symptoms include memory loss and confusion, personality and behavior changes, muscle stiffness/weakness, vision problems, hallucinations, delusions, difficulty speaking and swallowing, and coma.

Sporadic CJD presents in individuals who have no known risk factors for the disease and accounts for approximately 85% of all known cases of CJD. The exact cause of Sporadic CJD is not known, but experts believe it may be a combination of genetic and environmental factors. Diagnosis of Sporadic CJD can be challenging and often involves brain imaging techniques, medical history review, and other medical testing.

Familial CJD is found in individuals who have an inherited genetic mutation. That variant presents in a similar manner as Sporadic CJD but typically begins at a younger age and may progress more rapidly in some cases. Individuals who have a family history of Familial CJD may choose to pursue genetic counseling to determine their own risk and plan for the future.

Variant CJD (vCJD) has been found in Great Britain and several other European countries. This variant is known to affect people who are younger than those with other forms of CJD and is believed to be caused by eating beef from cattle infected with a TSE called bovine spongiform encephalopathy, more commonly known as “mad cow disease.”

Iatrogenic CJD is a form of the disease that is contracted through medical procedures. It occurs when infected brain or nervous system tissue is introduced to the body through transplantation or contaminated surgical instruments. The presentation of symptoms is similar to other variants of CJD, but this variant is particularly difficult to diagnose because the onset of symptoms may occur several years after the person came into contact with infected tissue or contaminated objects.

Chronic Traumatic Encephalopathy (CTE)

Initially known as dementia pugilistica, CTE is caused by repeated traumatic brain injuries (TBI) or head trauma. It has been most commonly found in athletes participating in contact sports such as football, ice hockey, and boxing, but can also occur in military personnel, victims of domestic abuse, and others with a history of repetitive head trauma. Currently, CTE can only be definitively diagnosed post-mortem through examination of brain tissue.

People with this condition may develop common symptoms including poor coordination, slurred speech, aggression, impulsivity, depressed or anxious mood, tremors, and issues with cognition and memory. The onset of symptoms can start anywhere from months to years after the head trauma has occurred, or they may not appear until decades later. The onset and progression of CTE symptoms can vary from person to person and are influenced by factors such as the number and severity of head injuries, age at the time of the injuries, genetics, and overall health.

This form of dementia also is characterized by brain atrophy and widespread deposits of tau aggregates. In some individuals, even just 5 to 10 years beyond the TBI events, behavioral and mood changes may occur long before changes in memory or cognition do. More research is needed to fully understand the mechanisms of CTE and to develop effective treatments.

Wernicke-Korsakoff Syndrome (Alcohol-Related Dementia)

Wernicke-Korsakoff Syndrome is a rare brain disorder that is caused by excessive and prolonged alcohol use, which results in a thiamine deficiency. This disorder is a combination of two different, but related, medical issues: Wernicke Encephalopathy (WE) and Korsakoff Psychosis. WE is an acute, life-threatening disorder which is caused by a lack of thiamine. This thiamine deficiency is a direct result of alcohol consumption which prevents the body from absorbing necessary nutrients.

WE is characterized by confusion, muscle paralysis, poor balance, and jerky eye movement. When WE goes untreated and alcohol consumption continues, most individuals go on to develop Korsakoff Psychosis, which is characterized by amnesia, difficulty processing new information, hallucinations, and false memory recollections. Wernicke-Korsakoff Syndrome is frequently referred to as “alcohol-related dementia” as it causes dementia symptoms including memory loss, problems with thinking and reasoning, and personality changes.

Those diagnosed with this condition are often younger (40-60 years old on average). One key difference between this neurological disorder and many others is that it can be treatable, depending on how far it has progressed. Treatment typically involves abstinence from alcohol, thiamine replacement, IV fluid replacement, nutritional support, and medication. Treatment outcomes are modest and usually occur over the course of two years. Early diagnosis and treatment are incredibly important in order to prevent permanent brain damage.

For more information on disorders like these and all things dementia, call us at 858.492.4400 and speak with one of our Clinical Care Coaches (Spanish speakers available). Also check out our free education classes, support groups, social activities, & more.