Understanding Parkinson's Disease

What is Parkinson's Disease?

Parkinson’s disease is a progressive neurological (nervous system) condition that results in symptoms of:

  • Tremor
  • Slowness and stiffness of movement
  • Difficulties with walking and balance
  • Changes in thinking and mood.

Current treatments are designed to treat the symptoms of Parkinson’s disease, but they don't change how the disease progresses. In addition, as with any drug, these drugs have side effects.

The availability of treatments to slow or stop the disease progression is a major unmet need for the approximately 8 million people affected by Parkinson's disease worldwide.

What is the link between Parkinson’s disease and genetics?

The exact cause of Parkinson’s disease is unknown, but research points to a combination of environmental and genetic factors. Researchers have discovered more than 100 known genetic mutations associated with Parkinson's disease. These discoveries have:

  • Greatly advanced our knowledge of the changes that occur in the brain as a result of Parkinson’s disease
  • Revolutionized the approach to the development of more effective therapies.

In some cases, Parkinson’s disease appears to be caused by a single genetic mutation in the DNA of affected individuals. In these instances:

  • The mutated gene is passed from generation to generation
  • There is a greater number of Parkinson's disease cases within an extended family.
  • Genetic testing (also known as DNA testing) for known Parkinson's disease genetic mutations can help identify the cause of Parkinson disease for an individual

What is LRRK2?

LRRK2 is a protein that is important for healthy cell function. One of the most common gene mutations that occurs in Parkinson’s disease is in the LRRK2 (leucine-rich repeat kinase 2) gene. LRRK2 mutations are more common in certain populations. Parkinson’s disease patients with certain LRRK2 mutations have increased activity of an enzyme called LRRK2 kinase.

Increased LRRK2 kinase activity results in the dysfunction of lysosomes—key components in maintaining the health of brain cells. This dysfunction causes degeneration to certain brain cells that may lead to the development of Parkinson’s disease.

There is currently no approved treatment targeted at blocking LRRK2 kinase activity. Nevertheless, ongoing research is investigating experimental therapies that address the effects caused by increased LRRK2 kinase activity.

These new therapies, known as LRRK2 inhibitors, may have the potential to preserve brain function and reduce progression of disability.

What are the reasons to get genetically tested?

For patients with Parkinson’s disease, the decision whether to get genetic testing is a personal choice. Some reasons to consider getting tested include:

  • There may be new investigational therapies that target specific proteins based on specific genetic mutations such as for LRRK2
  • Patients may be eligible to participate in clinical trials targeting their specific form of disease, which may lead to a more effective approach to Parkinson's disease treatment, and contribute to Parkinson's disease research and drug development

This is informational only and not intended to provide treatment guidance.

Patients should speak with their physician about treatment options.

Denali Research in Parkinson's Disease

Researchers at Denali Therapeutics are working to find new treatments for Parkinson’s disease.

Learn More