What is KIF1A mutation?

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.

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 type of gene is KIF1A and what does it do?

KIF1A (Kinesin Family Member 1A) is a Protein Coding gene. Diseases associated with KIF1A include Spastic Paraplegia 30, Autosomal Dominant and Nescav Syndrome.

What are the symptoms of KIF1A?

Some affected individuals have an autosomal dominant form of the disorder that has been associated with a variety of symptoms. These symptoms include intellectual disability, delays in reaching developmental milestones (developmental delays), diminished muscle tone (hypotonia), and delays in developing language.

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.

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.

Is KIF1A fatal?

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. It is a progressive and sometimes lethal disease with no cure or treatment.

Is KIF1A inherited?

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.

Can KIF1A be inherited?

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. KAND is a rare disease, and today there are approximately 200 people throughout the world with documented KAND diagnoses.

What are the symptoms of KIF1A mutation?

There is a wide range of symptoms and severity 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.

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 the prognosis of kif1a-related disorder?

KIF1A-related disorder can best be thought of as a spectrum of disease that can range from mild symptoms to severe, life-threatening complications. Treatment for these disorders is geared toward the specific symptoms that develop.