Woodhouse-Sakati syndrome

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

Woodhouse-Sakati syndrome. This is caused by mutations in the c2orf37 gene. The transmission is autosomal recessive. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the c2orf37 gene
  • The transmission is autosomal recessive

Neurological features

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Systemic features

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Investigations

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Treatment

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References

  1. Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. Am J Neuroradiol 2012; 33:407-414.
  2. Ben-Omran T, Ali R, Almureikhi M, et al. Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. Am J Med Genet A 2011; 155A:2647-2653.
  3. Alhodaif H, Alkhodair Y, Alotaibi F, Alqahtani S, Bohlega S, Aldakheel A. Long-term outcomes of deep brain stimulation in Woodhouse-Sakati Syndrome. Mov Disord 2026; 41:1427-1433.

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