Learn About Pantothenate Kinase-Associated Neurodegeneration

What is the definition of 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. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression.

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What are the causes of Pantothenate Kinase-Associated Neurodegeneration?

Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration.

How prevalent is Pantothenate Kinase-Associated Neurodegeneration?

The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide.

Is Pantothenate Kinase-Associated Neurodegeneration an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Who are the sources who wrote this article ?

Published Date: June 29, 2021Published By: National Institutes of Health

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