Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration or Hallervorden Spatz disease is a rare disease. People with this disease have dementia, or extreme forgetfullness, and their face my twitch. Hallervorden-Spatz disease is degenerative brain disease, meaning the longer a person has it the worse the effects become. Scientists think it is caused by a build up of too much Iron in the brain.

Iron deposit in globus pallidus, imaging by MRI

Symptoms

The effects of the disease usually start at a young age and often result in a quick death. Some effects include:

• Shaking of the arms and legs
• Weakness
• Muscle spasms

Related pages

• ICD G 23.0

Other websites

• Defining Mutation Found in Hallervorden-Spatz Syndrome
• 1H MR Spectroscopy and Relaxometry for the Determination of Iron and Metabolite Concentrations in Hallerworden-Spatz Syndrome Patients Archived 2016-03-04 at the Wayback Machine
• Zumrova Alena et al. 2005. First cases in the Czech Republic of the Hallervorden-Spatz Disease resulting from mutation in the Pantothenate Kinase 2 Gene Neuroendocrinology Letters No.3:26