Hereditary spastic paraplegia type 15 (SPG15)

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

Hereditary spastic paraplegia type 15 (SPG15). This is caused by mutations in the spastizin (ZFYVE26) gene on chromosome 14q.

Genetics

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

Clinical features

Locked: subscribe to see this section.

Differential diagnosis

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI) brain

Locked: subscribe to see this section.

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.

Related checklists

Loading...