Hereditary spastic paraplegia type 88 (SPG88)

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

Hereditary spastic paraplegia type 88 (SPG88). This is caused by mutations in the KPNA3 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the KPNA3 gene
  • The gene is on chromosome 13
  • The transmission is autosomal dominant
  • The onset age is usually in infancy and early childhood

Neurological features

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Magnetic resonance imaging (MRI) brain

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References

  1. Schob C, Hempel M, Safka Brozkova D, et al. Dominant KPNA3 mutations cause infantile-onset hereditary spastic paraplegia. Ann Neurol 2021; 90:738-750. 
  2. Estiar MA, Lail N, Dyment DA, et al. Heterozygous de novo KPNA3 mutations cause complex hereditary spastic paraplegia. Ann Neurol 2022; 91:730-732.
  3. De Winter J, Van de Vondel L, Züchner S, Ortibus E, Baets J. A recurrent KPNA3 missense variant causing infantile pure spastic paraplegia. Ann Neurol 2022; 91:298-299.

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