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  • Writer's pictureDr. Domenico Pratico

What is Huntington’s disease?~ Domenico Pratico, MD, FCPP


What is Huntington’s disease?~ Domenico Pratico, MD, FCPP

Huntington's disease (HD) is an inherited genetic disorder that causes nerve cells to gradually die, primarily in areas of the brain that control voluntary (intentional) movements, but also in other brain regions. For this reason, an individual with HD typically develops uncontrollable movements, called chorea, that resemble a dance (choreia, a word from ancient Greek which means dance), along with abnormal body postures, behavioral issues, cognitive difficulties, and personality changes.

 

Initially, the uncontrolled movements, which can involve the fingers, feet, face, or torso, become evident when the person is under stress, nervous, or distracted. Over time, as the disease progresses, these movements become more pronounced, often extreme, and at times debilitating.

 

Typically, the symptoms of HD manifest around 40-50 years of age (adult HD). However, although rare, they can also appear in children (juvenile HD). Like many other neurodegenerative diseases, the condition worsens over time. Early signs of HD can vary but often include mild clumsiness, balance or movement problems, cognitive or psychiatric symptoms (issues with thinking or emotion), and behavioral changes.

 

In addition to chorea, some individuals develop unusual fixed and rigid postures, a condition known as dystonia. These two movement disorders (chorea and dystonia) can blend or alternate. Other symptoms may include tremor (unintentional back-and-forth movement in the person's muscles) and unusual eye movements.

 

HD is an inherited disorder. It is passed from parent to child through a mutation (a change) in a specific gene located on chromosome 4, which is responsible for producing a protein called huntingtin. When a parent has HD, each child has a 50% chance of inheriting the copy of chromosome 4 that carries the HD mutation. If a child does not inherit the HD mutation, they will not develop the disease and cannot pass it on to future generations. When HD occurs without a family history, it is called sporadic HD.

 

Currently, there is no treatment that can stop or reverse HD, but some symptoms can be managed with antipsychotic or anxiolytic medications. We are learning more about HD over time, with important discoveries and updates that may improve how doctors care for this disorder in the future.

 

Work is underway to better understand the mechanisms responsible for the onset and progression of HD. Other projects are in full swing focusing on identifying and validating biomarkers for HD. Finally, research on drug discovery is now testing investigational drugs (both old and new) that may lead to new treatments and, at the same time, improve our understanding of the disease process in HD.



Domenico Praticò, MD, holds the position of the Scott Richards North Star Charitable Foundation Chair for Alzheimer’s Research and serves as a Professor and the Director at the Alzheimer’s Center at Temple, as well as a Professor of Pharmacology at Lewis Katz School of Medicine at Temple University.


For more information on the research conducted by Dr. Domenico Pratico, please visit this link.


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Stay updated with the work happening at Dr. Domenico Pratico's lab by visiting the Pratico Lab website. 

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