Hereditary spastic paraplegia type 15 (SPG15)

Evidence-based neurology checklist on hereditary spastic paraplegia type 15 (spg15): Genetics This is caused by mutations in the spastizin (ZFYVE26) gene on chromosome 14q The transmission is autosomal recessive Clinical features Differential diagnosis Magnetic resonance imaging (MRI) brain

Genetics

  • This is caused by mutations in the spastizin (ZFYVE26) gene on chromosome 14q
  • The transmission is autosomal recessive

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain

References

  1. Kara E, Tucci A, Manzoni C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 2016; 139:1904-1918.
  2. Goizet C, Boukhris A, Maltete D, et al. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology 2009; 73:1111-1119. 
  3. Nowak VA, Bremner F, Massey L, et al. Kjellin syndrome: hereditary spastic paraplegia with pathognomonic macular appearance. Pract Neurol 2014; 14:278-279.  
  4. Thatikala A, Boddu AV, Nayar D, Virmani T. Pearls & Oy-sters: Hereditary spastic paraplegia type 15 presenting as juvenile onset levodopa-responsive Parkinsonism. Neurology 2026; 106:e214514.

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