Hereditary spastic paraplegia type 42 (SPG42)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 42 (SPG42). This is caused by mutations in the SLC33A1 gene on chromosome 3q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the SLC33A1 gene on chromosome 3q
  • The transmission is autosomal dominant
  • The onset is usually in first and second decades

Clinical features

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References

  1. Lin P, Li J, Liu Q, et al. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet 2008; 83:752-759. 

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