Hereditary spastic paraplegia type 62 (SPG62)

Evidence-based neurology checklist on hereditary spastic paraplegia type 62 (spg62): Genetics This is caused by mutations in the ERLIN1 gene on chromosome 10q The transmission is autosomal recessive The gene is involved in mitochondrial network organisation The onset age is 18 months to 13 years…

Genetics

  • This is caused by mutations in the ERLIN1 gene on chromosome 10q
  • The transmission is autosomal recessive
  • The gene is involved in mitochondrial network organisation
  • The onset age is 18 months to 13 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343:506-511.
  2. Fowler PC, O'Sullivan NC. ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons. Hum Mol Genet 2016; 25:2827-2837.

Related checklists

Loading...