Is PKAN fatal?

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 common is PKAN?

PKAN affects males and females in equal numbers. The symptoms typically develop during childhood, although occasionally they begin during late adolescence or adulthood. Cases in infancy and of adult onset have also been reported. The frequency of PKAN is estimated to be one to three per million individuals worldwide.

What causes NBIA disease?

PKAN, or Pantothenic Kinase-Associated Neurodegeneration, is caused by mutations in the PANK2 gene. This is the most common form of NBIA, making up 35 percent to 50 percent of the NBIA population. This gene provides the instruction for making an enzyme called pantothenate kinase.

What does PKAN stand for?

Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis.

What is Joubert syndrome?

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and coordination — as well as a malformed brain stem (molar tooth sign).

Is there a cure for PKAN?

There is currently no established therapy for the disease. Intrathecal baclofen has been reported to improve ease of care and dystonia in PKAN patients. Deferiprone, an iron chelator, has been shown to be safe and tolerable in PKAN patients, as well as effective in reducing brain iron accumulation as measured by MRI.

Is NBIA curable?

There is no cure for NBIA, nor is there a standard course of treatment. Treatment is symptomatic and supportive, and may include physical or occupational therapy, exercise physiology, and/or speech pathology.

How is NBIA diagnosed?

The diagnosis is usually suspected when brain MRI findings suggest abnormal iron accumulation in the basal ganglia. Although all of us have iron in this area, people with NBIA have extra iron made visible on MRI (magnetic resonance imaging) scans.

Is PKAN genetic?

PKAN is inherited in an autosomal recessive manner and is caused by mutations in the PANK2 gene .

What is NBIA disorder?

Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Several genes have been found that cause NBIA.

What is the Leigh syndrome?

Definition. Leigh’s disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults.

What kind of enzyme does the PANK2 gene make?

The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2.

How is pantothenate kinase-associated neurodegeneration ( PKAN ) defined?

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease characterized by a progressive degeneration of the nervous system (neurodegenerative disorder) and buildup of iron in the brain. PKAN is usually classified into two forms: classic and atypical. Classic PKAN causes symptoms in the first ten years of life.

Why is PKAN considered an autosomal recessive disorder?

PKAN is inherited and is called an autosomal recessive disorder. Because most of our genes exist in pairs (one coming from the mother and one coming from the father), we normally carry two working copies of each gene.

How is pantothenate used to treat PKAN NBIA?

Some individuals with an atypical disease course have anecdotally reported improvements in dysarthria, gait imbalance and a sense of well-being when taking pantothenate. Clinical studies are underway to investigate the potential of a form of pantothenate, which is pantethine and pantethine derivatives, to treat PKAN.