KIF1A Associated Neurological Disorder (KAND) is a rare severe neurodevelopmental and neurodegenerative disease. KAND is caused by mutations in the KIF1A gene. There are currently over 550 known families impacted by KAND, and over 100 identified mutations in the KIF1A gene.
Mutations in KIF1A can cause: cognitive impairment; cerebellar atrophy; ataxia; spastic paraplegia; optic nerve atrophy; cortical vision impairment; peripheral neuropathy, and epilepsy. The set of symptoms and their severity vary depending on mutation type and individual patient.
Symptoms often appear at birth or in early childhood, but broader access to genetic testing has identified patients with adult onset of symptoms.
Difficult to Diagnose
Mutations in the KIF1A gene often occur spontaneously and are typically non-inherited genetic changes, or disease-causing genetic mutations. KIF1A Associated Neurological Disorder is 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. 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 genetic testing panels and enable the medical community to diagnose patients who would otherwise go years without answers.
While there is no cure or treatment for KAND yet, we can manage certain symptoms related to the disease. As we work to discover cures, current available treatments are purely symptomatic. Work closely with your physician to understand available treatment options and manage the constellation of challenges that KAND causes.
What doctors do we need to see?
- Spasticity: Consult a neurologist and physiatrist for management of spasticity.
- Movement Disorder and Muscle Tone: Physical and occupational therapies are critical, as well as orthopedic consultation.
- Epilepsy and Seizures: Ask your neurologist to request an EEG (a measurement of the brain’s electrical activity) to address uncontrolled seizures; preferably an overnight (24 hour) EEG to monitor brain activity during sleep.
- Eyesight and Vision: Consult an ophthalmologist, and if possible, a neuro-ophthalmologist to closely monitor changes in vision and optic nerve atrophy.
- Developmental Delay and Cognition: Follow up with your neurologist and request a brain MRI to monitor and evaluate for cerebral atrophy. A neuropsychologist can help determine KANDs impact on development and cognitive impairments as well.
- Speech: Speech therapy and routine monitoring with your primary care physician or pediatrician can improve communication, including speech.
For KAND clinical care, please consult your physician regularly and direct them to our website for the most up-to-date research and potential treatment options. The KIF1A Team at Columbia University has extensive research initiatives to inform the medical community. This research is supported by KIF1A.ORG and other resources.
What We Don’t Know
Until 2016, very little was known about KAND. It is important for caregivers and clinicians to look closely at every indication, to properly identify and diagnose this severe neurodegenerative disease. We are still learning about KAND and research is vital for us to discover treatment before time runs out. By supporting research initiatives together, we can stop the clock on KAND.
The constellation of symptoms, severity and progression of KAND occur at different rates and ages of every individual. Our forefront efforts to characterize KAND include the Natural History Study survey, KOALA assessments to create clinical endpoints, and the EEG study to determine electrical “fingerprints” of KAND in the brain. If you or a loved one has been diagnosed with KAND consult your physician immediately and reach out to our committed team of advocates.