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What is KIF1A-Associated Neurological Disorder (KAND)?
To answer this question, we need to start at the very beginning: genetics.
Genes are the building blocks of life. They’re just like recipes, but instead of making a cake or cookie, genes code for proteins that have important functions in the body. KIF1A is a specific gene found in the brain and nerves.
The protein produced by the KIF1A gene belongs to a group of proteins known as kinesins. Kinesins use energy from the cell to transport materials along microtubules, which are thin tubes connecting and providing structure to different parts of the cell. Kinesins play a critical role in cell division and the movement of structures in the cell.
Specifically, scientists have determined that the KIF1A protein primarily helps transport materials around nerve cells. In a recipe, if an ingredient is forgotten, measured incorrectly, or substituted for another ingredient, the end result will be different from what was originally intended.
The same is true for genes; if there is even one small change, the protein product could be completely altered, and this can have harmful effects throughout the entire body. These errors within genes are called mutations.
When the KIF1A gene becomes mutated, an improper protein product might be produced, meaning the protein is unable to transport materials throughout the cell as well as a healthy protein would have done. This can lead to a disorder known as KIF1A-Associated Neurological Disorder, or KAND.
Not all KAND patients have the same KIF1A mutation; in fact, many different KIF1A mutations have been recorded that can lead to KAND.
How do these mutations arise? Since every person has one copy of each gene from their biological mom and another copy from their biological dad, someone with KAND may have received a mutated copy of the KIF1A gene from one or both of their biological parents. It is also possible that the mutation occurred spontaneously during the formation of the egg or sperm.
It is important to understand that just because a child has KAND does not mean that their parents or siblings do.
How can you tell if someone has KAND? Since there are different mutations that lead to KAND, there are multiple presentations of the disorder, all of which are accompanied by different symptoms. In fact, even individuals with the exact same mutation may exhibit different symptoms.
However, researchers have compiled a list of common KAND symptoms:
● Intellectual disability, including developmental, speech, and language delays.
● Decreased muscle tone, also known as hypotonia.
● Exaggerated reflexes, called hyperreflexia.
● Weak and or tight leg muscles, which can result in trouble walking. This is known as spastic paraplegia.
● Vision difficulties due to the degeneration of the optic nerve, called optic nerve atrophy
● Epilepsy, which is characterized by seizures.
● Difficulty balancing and coordinating movements as a result of the deterioration of nerve cells in the brain, also known as cerebellar atrophy.
● Damaged peripheral nerves, leading to numbness, burning, or tingling sensations in the hands and feet, called peripheral neuropathy.
● Ataxia, which results in coordination difficulties.
If a child presents multiple symptoms, it is a good idea to consult a doctor. However, the only way to be conclusively diagnosed with KAND is to have genetic testing done.
Since there is currently no treatment or cure directly for KAND, existing treatment options focus on managing specific symptoms. As a result, patients typically see a variety of specialists to help with speech, visibility, physical, neurological, and other symptoms.
What is KIF1A.ORG? KIF1A.ORG is a non-profit organization that is committed to creating a community of affected families and funding research that will ultimately result in a treatment and cure for KAND. You can contact KIF1A.ORG via Twitter, Facebook, LinkedIn, Instagram, or email. Visit KIF1A.ORG for more information.