Hereditary spastic paraplegia type 87 (SPG87)

Evidence-based neurology checklist on hereditary spastic paraplegia type 87 (spg87): Genetics This is caused by mutations in the TMEM63C gene The gene is on chromosome 14 The transmission is autosomal recessive The onset age is in infancy Neurological features Ophthalmic features

Genetics

  • This is caused by mutations in the TMEM63C gene
  • The gene is on chromosome 14
  • The transmission is autosomal recessive
  • The onset age is in infancy

Neurological features

Ophthalmic features

References

  1. Tábara LC, Al-Salmi F, Maroofian R, et al. TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain 2022; 145:3095-3107. 

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