Hereditary spastic paraplegia type 75 (SPG75)

Evidence-based neurology checklist on hereditary spastic paraplegia type 75 (spg75): Genetics This is caused by mutations in the MAG gene on chromosome 19q The transmission is autosomal recessive It is infantile onset Neurological features Ophthalmologic features Magnetic resonance imaging (MRI)…

Genetics

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

Neurological features

Ophthalmologic features

Magnetic resonance imaging (MRI) brain: features

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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