What causes Hallervorden-Spatz disease? HSD is a genetic disease. It’s usually caused by an inherited defect in your pantothenate kinase 2 (PANK2) gene. The PANK2 protein controls your body’s formation of coenzyme A.

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.

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.

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.

Summary. Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system (neurodegenerative disorder).

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.

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.

General Discussion. Segawa syndrome is a rare genetic disorder characterized by an uncoordinated or clumsy manner of walking (abnormal gait) and dystonia.

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.

Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders.