KIF1A Associated Neurological Disorder (KAND) is a severe and rare neurodegenerative disorder with a progressive course. KAND is caused by gain of function mutations in the KIF1A gene. The condition can affect both the brain and body, such as the eyes, muscles and nerves. There is a wide range of symptoms that appear at birth or in early childhood.
Mutations in KIF1A can cause: cognitive impairment; cerebellar atrophy; ataxia; spastic paraplegia; optic nerve atrophy; cortical vision impairment; peripheral neuropathy and epilepsy.
Difficult to Diagnose
Though they can be inherited, KIF1A gene mutations often occur spontaneously and are non-inherited genetic changes (sporadic de novo mutations), making the disorder difficult to diagnose without extensive genetic testing.
While KAND is a neurodegenerative disease, it does not affect any two people the same way. Progression and severity of KAND varies by mutation, and some mutations are more common than others. Whole Exome or Whole Genome Sequencing is often how families receive a diagnosis, and we believe KAND affects exponentially more people than are identified today. KIF1A.ORG continues to work with genetic testing companies like GeneDx and Invitae to include KIF1A on gene panels that make diagnosing KAND easier for the medical community.
Care Recommendations
While there’s no cure or treatment for KAND (yet), you can treat or manage certain symptoms related to the disorder. Examples of symptomatic medicines include anti-epileptic drugs for seizures and botox for spasticity.
Managing Symptoms
We recommend seeing the following doctors for care recommendations based on the KAND symptoms you or a loved one is experiencing.
- Spasticity and neurological abnormalities: Consult a neurologist for management of spasticity or other neurological symptoms
- Epilepsy: Request an EEG (a measurement of the brain’s electrical activity) to address uncontrolled seizures
- Impaired vision: Consult an ophthalmologist and/or neuro-ophthalmologist to monitor vision changes
- Developmental delays: For children, follow up with a pediatrician to monitor growth and development
- Issues with coordination, muscle tone and speech: Physical, occupational and speech therapies are needed
For clinical care and monitoring of children with KAND, please visit Chung Lab at Columbia University Medical Center. To date, they have the most extensive knowledge of KAND and caring for those affected by it.
What We Don’t Know
Until recently, very little was known about KAND. It is important for caregivers and clinicians to look closely for rare symptoms that are unique to KAND, and for researchers to understand how mutations in KIF1A cause this severe neurological disease. We are still learning about KAND and research is critical to discover treatment before time runs out.
The constellation of symptoms, severity and progression of the disorder are very dependant on the individual. If you or a loved one has been diagnosed with KAND, consult a physician immediately.