Pantothenate kinase-associated neurodegeneration
PKAN, formerly called Hallervorden-Spatz syndrome, is a rare and devastating neurological disorder. In many cases, the first signs and symptoms of the disease occur in early childhood. The disease is estimated to affect up to 5,000 people worldwide. The disorder is inherited in an autosomal recessive genetic manner, meaning that a child is affected when each parent passes on one mutated gene.
PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA). Symptoms include dystonia (sustained muscle contractions causing repetitive movements), muscular rigidity, cognitive impairment, and difficulty speaking.
At the root of PKAN is a mutation in the PANK2 gene, which causes a reduction in the activity of the PanK2 enzyme. In normal biochemical process, the PanK2 enzyme converts pantothenate (PA, vitamin B5) to phosphopantothenate (PPA), and is required for the production of the protein coenzyme A (CoA). CoA is essential for many critical biochemical reactions in the body, including energy metabolism, membrane integrity and cell signaling.
There are no approved treatment options indicated for PKAN.
The following organizations may be a resource for information and support for people with PKAN and those around them:
In its drive to find a cure for NBIA, this organization's mission is to provide support to families, educate the public and accelerate research with collaborators from around the world. Among its many goals, the NBIA aims to provide a supportive environment for people affected by these disorders, while increasing recognition of the disorders, promoting early diagnosis and access to optimal care. In addition, the organization is committed to driving research to ultimately find a cure for NBIA disorders.
Global Genes is a non-profit patient advocacy organization working to eliminate the challenges of rare disease by building awareness, educating the global community, and providing critical connections and resources that equip advocates to become activists for their disease. Global Genes promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon™. Numerous tools, resources and educational events can be found on the Global Genes website www.globalgenes.org.
The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service. In the US, NORD is also the official sponsor of Rare Disease Day, an annual global observance that raises awareness of rare diseases and elevates them into the public consciousness as an important health issue that cannot be ignored.
EURORDIS is a non-governmental patient-driven alliance of more than 700 rare disease patient organisations in more than 60 countries. EURORDIS strives to build a strong pan-European community of patient organisations and people living with a rare disease, to be their voice at the European level, and - directly or indirectly - to fight against the impact of rare diseases on their lives. EURORDIS leads global efforts for Rare Disease Day and the online social platform for people living with or affected by a rare diseases RareConnect. EURORDIS represents the voice of an estimated 30 million people living with a rare disease in Europe. Follow @eurordis or see the EURORDIS Facebook page. For more information visit: www.eurordis.org.