Hereditary spastic paraplegia type 18 (SPG18)

Evidence-based neurology checklist on hereditary spastic paraplegia type 18 (spg18): Genetics This is caused by mutations in the ERLIN2 gene on chromosome 8p The transmission is autosomal recessive ERLIN2 mutations also causes juvenile amyotrophic lateral sclerosis (ALS) Clinical features Magnetic…

Genetics

  • This is caused by mutations in the ERLIN2 gene on chromosome 8p
  • The transmission is autosomal recessive
  • ERLIN2 mutations also causes juvenile amyotrophic lateral sclerosis (ALS)

Clinical features

Magnetic resonance imaging (MRI) brain

Electroencephalogram (EEG)

References

  1. Alazami AM, Adly N, Al Dhalaan H, Alkuraya FS. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics 2011; 12:333-336. 
  2. Al-Yahyaee S, Al-Gazali LI, De Jonghe P, et al. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 2006; 66:1230-1234.
  3. Yıldırım Y, Orhan EK, Iseri SA, et al. A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. Hum Mol Genet 2011; 20:1886-1892. 
  4. Al-Saif A, Bohlega S, Al-Mohanna F. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol 2012; 72:510-516.
  5. Amador MD, Muratet F, Teyssou E, et al. Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS. Neurol Genet 2019; 5:e374. 

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