How rare is KIF1A?
KIF1A affects less than 200 people worldwide with symptoms appearing at birth or early childhood. From epilepsy, neuropathy or problems of the nerve cells, intellectual disability, developmental delay, and optic nerve atrophy, each child with KIF1A-associated disease can present with different signs and symptoms.
What type of gene is KIF1A?
KIF1A (Kinesin Family Member 1A) is a Protein Coding gene. Diseases associated with KIF1A include Spastic Paraplegia 30, Autosomal Dominant and Nescav Syndrome.
What is KIF1A disorder?
KIF1A syndrome is a neurological condition caused by changes in the KIF1A gene. The condition usually begins to show symptoms in childhood or early teenage years. One of the main features of the condition is weakness and stiffness in the legs.
What chromosome is KIF1A on?
KIF1A is a neuron-specific member of the kinesin-3 family and is a microtubule plus end-directed motor protein involved in the anterograde, long-distance transport of vesicles and organelles….
| KIF1A | ||
|---|---|---|
| Location (UCSC) | Chr 2: 240.71 – 240.82 Mb | Chr 1: 93.02 – 93.1 Mb |
| PubMed search | ||
| Wikidata | ||
| View/Edit Human View/Edit Mouse |
Is there a cure for KIF1A?
Currently there are no approved treatments and no cure for KIF1A Associated Neurological Disorder, and the only relief for families is symptomatic. The goal of our research is to better understand the KIF1A gene, find treatment and ultimately cure the disorder. KIF1A.ORG is the only group funding critical research.
What is KIF1A mutation?
Mutations in KIF1A are a rare cause of hereditary sensory and autonomic neuropathy type 2. A mutation in KIF1A is associated with a pure form of hereditary spastic paraparesis. (HSP) cases in a single inbred family.
Is KIF1A hereditary?
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.
How does KIF1A happen?
In dominant disorders, the abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. Some people with a KIF1A-relataed disorder have a variation in the KIF1A gene that is inherited in an autosomal dominant pattern.
Is KIF1A inherited?
What is spastic paraplegia?
Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time. It’s also known as familial spastic paraparesis or Strümpell-Lorrain syndrome.
What happens in the body when a person has 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.
What is the KIF1A gene?
The KIF1A gene gives important instruction for the production of the KIF1A protein, which is vital for the health of brain cells and nerve fibers. The KIF1A protein is a motor protein, meaning it helps control the transport of nutrients and other molecules within nerve cells along nerve fibers.
What is KIF1A associated neurological disorder (Kand)?
Mutations in the KIF1A gene cause KIF1A Associated Neurological Disorder (KAND). To understand the disease, we have to learn about the gene that causes it. The KIF1A gene gives important instruction for the production of the KIF1A protein, which is vital for the health of brain cells and nerve fibers.
What is keykif1a and how does it work?
KIF1A is a neuron-specific member of the kinesin-3 family and is a microtubule plus end-directed motor protein involved in the anterograde, long-distance transport of vesicles and organelles.
What is hypotonia and KIF1A?
To learn more about seizures and KIF1A visit the Epilepsy Foundation website. Hypotonia is the medical term for low muscle tone. Infants and young children experiencing this symptom are often described as “floppy.” You may notice a child feeling limp when you hold them and showing less control of their neck muscles, causing the head to drop.