Hereditary spastic paraplegia type 18 (SPG18)

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

Hereditary spastic paraplegia type 18 (SPG18). This is caused by mutations in the ERLIN2 gene on chromosome 8p. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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Electroencephalogram (EEG)

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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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