Hereditary spastic paraplegia type 88 (SPG88)

Evidence-based neurology checklist on hereditary spastic paraplegia type 88 (spg88): 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 Magnetic…

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

Magnetic resonance imaging (MRI) brain

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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