SPG7 gene


Gene (OMIM No.)
Function of gene/protein
  • Spastic paraplegia 7 protein (paraplegin)
  • Involved in mitochondrial function
Clinical phenotype
(OMIM phenotype no.)
  • Spastic paraplegia 7 (SPG7) (#607259)
  • Autosomal recessive
Ocular features
  • Optic atrophy
Visual function
  • Progressive vision loss
Systemic features
  • Spastic paraplegia
  • Ataxia
Key investigations
  • Genetic testing: identification of SPG7 mutations
  • MRI: to assess brain and spinal cord changes
  • Supportive care including physical therapy
  • Regular neurological and ophthalmological follow-up
Therapies under research
  • None currently specified

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  1.  Charif M, Chevrollier A, Gueguen N, Bris C, Gouden√®ge D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. Neurology: Genetics. 2020 May 20;6(3):e428.

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Updated on July 5, 2024
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