Hereditary spastic paraplegia type 75 (SPG75)

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

Hereditary spastic paraplegia type 75 (SPG75). This is caused by mutations in the MAG gene on chromosome 19q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the MAG gene on chromosome 19q
  • The transmission is autosomal recessive
  • It is infantile onset

Neurological features

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Ophthalmologic features

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Magnetic resonance imaging (MRI) brain: features

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References

  1. Roda RH, FitzGibbon EJ, Boucekkine H, Schindler AB, Blackstone C. Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site. Ann Clin Transl Neurol 2016; 3:650-654. 
  2. Lossos A, Elazar N, Lerer I, et al. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. Brain 2015; 138:2521-2536. 
  3. Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343:506-511.

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