Hereditary spastic paraplegia type 62 (SPG62)

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

Hereditary spastic paraplegia type 62 (SPG62). This is caused by mutations in the ERLIN1 gene on chromosome 10q. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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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.

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