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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Juvenile primary lateral sclerosis


Other Names for this Disease
  • JPLS
  • PLS juvenile
  • Primary lateral sclerosis, juvenile
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Cause


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What causes juvenile primary lateral sclerosis?

Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.[1]
Last updated: 3/4/2011

References
  1. Juvenile primary lateral sclerosis. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/juvenile-primary-lateral-sclerosis. Accessed 3/4/2011.