What is pantothenate kinase-associated neurodegeneration?

What is pantothenate kinase-associated neurodegeneration?

Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood.

Is there a cure for PKAN?

Although there is currently no established therapy for PKAN, various drugs are used to alleviate or lessen its symptoms. Baclofen, a gamma-aminobutyric acid (GABA) receptor agonist, is one of the ‘mainstay drugs’ used to treat dystonia in patients with PKAN4.

Is PKAN fatal?

All three of Jessop’s children were diagnosed with pantothenate kinase-associated neurodegeneration, or PKAN. PKAN is an incredibly rare, and always fatal, disease that creates build up of iron in the brain, causing developmental difficulties. On average, children diagnosed with PKAN do not live past the age of 11.

How is PKAN diagnosed?

PKAN is typically diagnosed by molecular genetic testing, most often after a characteristic finding on magnetic resonance imaging (MRI), called the “eye-of-the-tiger” sign, is detected. PKAN is inherited as an autosomal recessive genetic condition and is described as being classical or atypical.

What is NBIA disorder?

Neurodegeneration with brain iron accumulation (NBIA) are a group of very rare nervous system disorders. They are passed down through families (inherited). NBIA involves movement problems, dementia, and other nervous system symptoms.

What is PCAN disease?

Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden–Spatz syndrome, is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death.

What is Aceruloplasminemia?

Aceruloplasminemia (ACP) is a rare, adult-onset, autosomal recessive disorder, characterized by systemic iron overload due to mutations in the Ceruloplasmin gene (CP), which in turn lead to absence or strong reduction of CP activity.

How many people have NBIA?

The frequency of NBIA in the general population is estimated between one to three people per 1 million individuals. Because rare disorders like NBIA often go unrecognized, these disorders may be underdiagnosed or misdiagnosed, making it difficult to determine the accuracy of these estimates.

What causes NBIA?

NBIA Type 1 (NBIA-1) and Type 2 (NBIA-2) are caused by one or more genetic mutations that result in iron being deposited in regions of the brain that control movement and balance; the most common mutation involves the PANK2 gene.

What is Dysmetabolic Hyperferritinemia?

Dysmetabolic hyperferritinemia, also known as insulin resistance associated with iron overload, is a much more common disorder than recognized clinically by physicians. It is characterized by the presence of elevated serum ferritin, but normal transferrin saturation in an individual with features of metabolic syndrome.

Can Aceruloplasminemia be cured?

There is no standard treatment for aceruloplasminemia. Patients are managed by a team of medical professionals that recommends treatments based on current symptoms. Chelation therapy should be considered since iron accumulates in both the brain and the body organs.

What is NBIA and how does it affect the body?

Most forms of NBIA involve eye disease. The most common problems are degeneration of the retina and optic atrophy. The retina is a thin membrane that lines the back of the eyeball; it helps the eye perceive an image and send it into the brain. In NBIA, early signs of retinal degeneration may be poor night vision or tunnel vision.

What is PKAN in neurology?

Pantothenate kinase-associated neurodegeneration (PKAN) is a form of neurodegeneration with brain iron accumulation, or NBIA (formerly called Hallervorden-Spatz syndrome). PKAN is characterized by progressive dystonia and basal ganglia iron deposition with onset that usually occurs before age ten years.

What is classic PKAN and how does it develop?

Classic PKAN develops in the first 10 years of life, starting around age 3 1/2, on average. These children may initially be perceived as clumsy and later develop more noticeable problems with walking. Eventually, falling becomes more common.

What is the relationship between NBIA and iron accumulation?

The exact relationship between iron accumulation and the symptoms of NBIA is not fully understood. Although we all normally have iron in this area, people with NBIA have extra iron that can be seen on MRI (magnetic resonance imaging). Certain MRI views (T-1 and T2-weighted images) show the iron as dark regions in the brain.