Hereditary spastic paraplegia type 22 (SPG22)

Evidence-based neurology checklist on hereditary spastic paraplegia type 22 (spg22): Genetics This is caused by mutations in the SLC16A2 gene on chromosome Xq The transmission is X-linked The gene encodes monocarboxylate transporter 8 (MCT8): this is a thyroid hormone transporter The mutation also…

Genetics

  • This is caused by mutations in the SLC16A2 gene on chromosome Xq
  • The transmission is X-linked
  • The gene encodes monocarboxylate transporter 8 (MCT8): this is a thyroid hormone transporter
  • The mutation also causes Allan Herndon Dudley syndrome

Clinical features

Magnetic resonance imaging (MRI)

References

  1. Bohan TP, Azizi P. Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? Arch Neurol 2004; 61:1470-1471.
  2. Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 2005; 77:41-53. 
  3. La Piana R, Vanasse M, Brais B, Bernard G. Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. J Child Neurol 2015; 30:1371-1374. 
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