KIF1A Associated Neurological Disorder (KAND)
KIF1A Associated Neurological Disorder (KAND)
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Author: Wendy Kay Chung, MD, Columbia University Medical Center 

Reviewed: February 2022 


KIF1A associated neurological disorder (KAND) is caused by one or more disease-causing variations in the KIF1A gene. KIF1A is responsible for producing the KIF1A protein. This protein is, in turn, vital for the health of brain cells and nerve fibers.  

Even different variations in the gene can lead to similar signs and symptoms. However, different individuals will experience KAND differently. KAND varies in terms of: 

  • The specific symptoms that develop 
  • The progression of the symptoms 
  • The overall severity of the disorder 

KAND is best described as a spectrum-type disorder. It ranges from causing mild symptoms to severe, life-threatening complications. This difference is in part dependent on: 

  • Where in the gene the variation occurs 
  • The type of variation that occurs 
  • How the gene is inherited 

In some people, KIF1A variants are inherited from both parents. In others, it can be inherited from only one parent. KIF1A variants can also occur spontaneously. This means that it can be a new change to a child’s gene instead of an inherited one. KAND is managed based on each child’s symptoms. 



Disorder Overview


Signs and symptoms of KAND are progressive. They can also vary greatly from one individual to another. These differences depend on: 

  • Where in the gene the variation occurs 
  • The type of variation that occurs 
  • The inheritance pattern 
  • Other factors 

Researchers and clinicians are still learning about KAND. A global KIF1A Patient Registry and Natural History Study is now following patients over time to learn more about this gene, variations in the gene, and its impact on health.

KAND is Often Underdiagnosed or Misdiagnosed 

KAND is underdiagnosed. This means that many people who have the disorder do not know it is caused by KAND. The KIF1A.ORG foundation knows of more than 350 families around the world with documented KIF1A variants. While those known to be living with KAND are limited, it is estimated that the KAND likely affects tens of thousands of people.  

Many have also been misdiagnosed with disorders with similar symptoms. In fact, about 1 in 4 of those later diagnosed with KAND previously had a cerebral palsy diagnosis. This is partly because KIF1A gene mutations are difficult to diagnose without extensive genetic testing. Common misdiagnoses include: 


Symptoms of KAND fall into several categories:


  • Hypotonia. Too little muscle tone. 
  • Hypertonia. Too much muscle tone. 
  • Peripheral neuropathy. Damage to the nerves throughout the body. This can cause weakness, numbness, and pain, or affect other body functions. 
  • Hereditary Spastic Paraplegia (HSP). Weakness or stiffness in the legs that gets worse over time. 
  • Ataxia. Trouble with coordination. 
  • Epilepsy. Seizures that take place due to abnormal brain activity. 
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Cognitive and behavioral

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  • Gastroesophageal reflux disease (GERD). Causes acid reflux and indigestion.  
  • Constipation.
  • Diarrhea.
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Eyes and vision

  • Optic nerve atrophy or hypoplasia. Problems with the optic nerve affecting vision. 
  • Cortical visual impairment. Trouble with visual responses. 
  • Strabismus. When eyes do not line up normally.
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Difficulty with temperature regulation. This can cause sporadic fevers unrelated to illness.

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Some signs of KAND can be seen with neuroimaging. Neuroimaging takes pictures of the brain. One type of neuroimaging is magnetic resonance imaging (MRI). MRI in those with KAND may be abnormal. It may show atrophy in certain parts of the brain.

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KAND is caused by a variation in the KIF1A gene. The variation can be: 

  • De novo. This means that the KIF1A change newly occurred in the child’s genetic code. 
  • Inherited and one gene affected. This means that a variant KIF1Agene was inherited from one parent and a normal KIF1A gene was inherited from the other parent. There is only one variant KIF1A gene. 
  • Inherited and two genes affected. This means that variant KIF1A genes were inherited from both parents. There are two variant KIF1A genes.


A diagnosis of KAND may be made based on: 

  • Symptoms 
  • A detailed patient and family history 
  • A thorough clinical evaluation 
  • A variety of specialized tests 

Genetic Testing 

A diagnosis can be confirmed with genetic testing. Some people use a genetic panel that tests a subset of genes. However, the best genetic test for identifying KAND is called whole exome sequencing (WES). Sometimes blood from parents is also used as part of WES. It can help with comparison. WES can show: 

  • Variations in the KIF1A gene that are known to cause disease 
  • Variations in other genes known to cause symptoms like KAND 

Other Testing 

People who are diagnosed with KAND may be given additional tests that can help show the extent of the disease. Some examples include: 

  • Routine neurologic exams 
  • Neurophysiologic tests 
  • Neuroimaging 

Additionally, an eye exam with an ophthalmologist can check for visual impact from the disorder, such as: 

  • Optic nerve atrophy 
  • Cortical visual impairment 
  • Strabismus 
  • Cataracts 

KAND is progressive, so changes can develop over time. Children with KAND should be regularly checked by appropriate specialists.

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Basic Treatment and Therapies 

KAND is treated based on the symptoms that are present. There are no official care guidelines for those with KAND. Treatment may require a team of specialists working together. Genetic counseling is recommended for people with KAND and their families. Support for the entire family may also be necessary. 

Following an initial diagnosis:

  • First, a doctor may assess the child’s development. 
  • Second, they will recommend appropriate occupational, physical, speech, and feeding therapies. 
  • Third, the child may need ongoing assessments and adjustments over time.  

Additional services might also be needed. These can include:

  • Medical services 
  • Social services 
  • Vocational services 
  • Specialized learning programs 

Some specific symptoms that should be addressed include: 

  • Seizures. Should be assessed and treated. 
  • Vision. Should be assessed and safety measures set in place. 
  • Spasticity, or tight muscles. May be treated with a muscle relaxant like baclofen. 

Other Beneficial Therapies 

KAND patients may also benefit from: 

  • Hippotherapy (Horseback riding therapy) 
  • Aquatic therapy (therapy performed in water) 
  • Other evidence-based practices 
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While there is no treatment or cure for KAND yet, the main goal for treating KAND symptoms is “care until a cure.” Because the symptoms and expected outcomes are different for each person with KAND, the outlook varies a lot from patient to patient.  

Though a person cannot yet be cured of the disorder, many things can help those with KAND function optimally in school, work, and other areas of life. Children with KAND can benefit from: 

  • An individualized plan of care 
  • An individualized education plan 
  • Therapies 
  • Medications 
  • Orthotics 
  • Assistive devices 
  • Learning or emotional support services


KIF1A.ORG is a family-led, global community working to eliminate the challenges of rare disease and to urgently find treatment for KIF1A Associated Neurological Disorder (KAND). With approximately 350 known cases of KAND across 20+ countries, KIF1A.ORG works alongside families, a network of researchers and clinicians, industry partners, and partner organizations to move toward the mission and vision of a cure for KAND. KIF1A.ORG is dedicated to providing support to the family community through Family Support and Resources, including a Newly Diagnosed page, a What Is KIF1A video summary, and a conference page. Through crowdsourced fundraising efforts, KIF1A.ORG has helped fund various research projects and the KIF1A Natural History Study at Chung Lab, Columbia University Medical Center. An engaged group of patients, families, and loved ones have joined together in a private Facebook group, KIF1A Family Support Group, to share experiences, ask questions, and provide support to each other. 

Childhood Stroke 1

Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF. 


Currently, there are no listings for KIF1A Associated Neurological Disorder (KAND) in Check back often and talk with your healthcare provider to identify upcoming trials.   

If you have an interest in searching for any future trials that may be starting:  

  1. Go to the Home page of 
  2. Under “Status”, click on “Recruiting and not yet recruiting studies”  
  3. Under “Condition or disease”, type KIF1A Associated Neurological Disorder or KAND in the field. A drop-down list will appear if this disorder is included.  
  4. You can narrow the search by entering a Country name  
  5. Once on the disorder page of trials, narrow your search under is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details.     

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits.

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits. 

Family Stories 

Meet some of the Superheroes battling KIF1A Associated Neurological Disorder (KAND) featured on the KIF1A.ORG website.

The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only. CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options.


Reviews and Guidelines:

Boyle L, Rao L, Kaur S, Fan X, Mebane C, Hamm L, Thornton A, Ahrendsen JT, Anderson MP, Christodoulou J, Gennerich A, Shen Y, Chung WK. Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder. HGG Adv. 2021 Apr 8;2(2):100026. Epub 2021 Jan 30. PMID: 33880452; PMCID: PMC8054982. 

National Organization for Rare Disorders, Inc. KIF1A related disorder [Internet]. Danbury, CT.: National Organization for Rare Disorders (NORD). 2019. Available from:  

KIF1A.ORG. Frequently asked questions [Internet]. New York, NY: KIF1A.ORG. 2021. Available from: 

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