Hereditary spastic paraplegia type 87 (SPG87)

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

Hereditary spastic paraplegia type 87 (SPG87). This is caused by mutations in the TMEM63C gene. Fully referenced neurology checklist.

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

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Ophthalmic features

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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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