Hereditary spastic paraplegia type 23 (SPG23)

Evidence-based neurology checklist on hereditary spastic paraplegia type 23 (spg23): Genetics This is caused by mutations in the DSTYK gene on chromosome 1q The transmission is autosomal recessive Neurological features Dermatological features Other clinical features Magnetic resonance imaging…

Genetics

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

Neurological features

Dermatological features

Other clinical features

Magnetic resonance imaging (MRI) brain

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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