Hereditary spastic paraplegia type 83 (SPG83)
Evidence-based neurology checklist on hereditary spastic paraplegia type 83 (spg83): 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 Dysmorphic features Magnetic resonance…
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
Dysmorphic features
Magnetic resonance imaging (MRI)
Other investigations
References
- Wiessner M, Maroofian R, Ni MY, et al. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021; 144:1422-1434.
- 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.
- 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.
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