Hereditary spastic paraplegia type 23 (SPG23)

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

Hereditary spastic paraplegia type 23 (SPG23). This is caused by mutations in the DSTYK gene on chromosome 1q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the DSTYK gene on chromosome 1q
  • The transmission is autosomal recessive

Neurological features

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Dermatological features

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Other clinical features

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Magnetic resonance imaging (MRI) brain

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References

  1. Lee JY, Hsu CK, Michael M, et al. Large intragenic deletion in DSTYK underlies autosomal-recessive complicated spastic paraparesis, SPG23. Am J Hum Genet 2017; 100:364-370. 
  2. Abdallat A, Davis SM, Farrage J, McDonald WI. Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. JNNP 1980; 43:962-966.
  3. Lison M, Kornbrut B, Feinstein A, Hiss Y, Boichis H, Goodman RM. Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. Am J Med Genet 1981; 9:351-357.
  4. Mukamel M, Weitz R, Metzker A, Varsano I. Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome. Am J Dis Child 1985; 139:1090-1092. 

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