Hereditary spastic paraplegia type 83 (SPG83)

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

Hereditary spastic paraplegia type 83 (SPG83). This is caused by mutations in the HPDL gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the HPDL gene
  • The gene is on chromosome 1
  • The transmission is autosomal recessive
  • Onset is in the juvenile ages

Neurological features

Locked: subscribe to see this section.

Dysmorphic features

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI)

Locked: subscribe to see this section.

Other investigations

Locked: subscribe to see this section.

References

  1. Wiessner M, Maroofian R, Ni MY, et al. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021; 144:1422-1434. 
  2. Husain RA, Grimmel M, Wagner M, et al. Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Am J Hum Genet 2020; 107:364-373.
  3. Ghosh SG, Lee S, Fabunan R, et al. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genet Med 2021; 23:524-533.

Related checklists

Loading...