What is hallervorden Spatz syndrome?
Hallervorden–Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase–associated neurodegeneration.
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.
What causes PKAN disease?
PKAN is an autosomal recessive condition caused by mutations in the PANK2 gene, located on chromosome 20. This gene encodes the enzyme pantothenate kinase, and mutations in the gene lead to an inborn error of vitamin B5 (pantothenate) metabolism. Vitamin B5 is required for the production of coenzyme A in cells.
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.
What is Neuroferritinopathy?
Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40.
What type of muscle does dystonia affect?
It has, though, been reported in people of all ages. Cervical dystonia affects the neck muscles, causing the head to twist and turn or be pulled backward or forward. Cranial dystonia affects the head, face, and neck muscles. Oromandibular dystonia causes spasms of the jaw, lips, and tongue muscles.
What is neuro Neuroacanthocytosis?
INTRODUCTION. Neuroacanthocytosis refers to a group of rare diseases that share the features of central nervous system degeneration, neuromuscular manifestations, and acanthocytosis on a peripheral blood smear. An acanthocyte is a spiculated form of a red blood cell (RBC) (picture 1).
What is NBIA?
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 does PKAN mean?
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.
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 NBIA disorder?
Is iron bad for your brain?
A recent study from the University of California Los Angeles (UCLA) also linked high iron levels to Alzheimer’s disease. The researchers there said the connection may be because excess iron can cause oxidative stress, a type of damage to which the brain is especially sensitive.
What is Hallervorden-Spatz disease (HSD)?
Hallervorden-Spatz disease (HSD) is also known as neurodegeneration with brain iron accumulation or pantothenate kinase-associated neurodegeneration. It’s an inherited neurological disorder. It causes issues with movement.
What is PKAN (Hallervorden–Spatz syndrome)?
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. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain.
Is Hallervorden-Spatz disease caused by PANK2 mutations?
In some cases, HSD isn’t caused by PANK2 mutations. Several other gene mutations have been identified in association with Hallervorden-Spatz disease, but they’re less common than the PANK2 gene mutation. In HSD, there’s also a buildup of iron in certain parts of the brain. This buildup causes the symptoms of the disease and it worsens over time.
Can Hallervorden-Spatz disease be detected in pregnancy?
Screening for HSD isn’t typical, but it can be obtained if you have symptoms. If you have a family risk of the disease, you can have your baby genetically tested with an amniocentesis while in utero. How is Hallervorden-Spatz disease treated?