Hereditary spastic paraplegia type 20 (SPG20)

Evidence-based neurology checklist on hereditary spastic paraplegia type 20 (spg20): Genetics This is caused by mutations in the spartin (SPERTIN) gene on chromosome 13q The transmission is autosomal recessive It may be associated with cytochrome C oxidase deficiency Clinical features: Troyer…

Genetics

  • This is caused by mutations in the spartin (SPERTIN) gene on chromosome 13q
  • The transmission is autosomal recessive
  • It may be associated with cytochrome C oxidase deficiency

Clinical features: Troyer syndrome

Nerve conduction studies (NCS): features

Muscle and nerve biopsy

Magnetic resonance imaging (MRI) brain: features

References

  1. Tawamie H, Wohlleber E, Uebe S, Schmäl C, Nöthen MM, Abou Jamra R. Recurrent null mutation in SPG20 leads to Troyer syndrome. Mol Cell Probes 2015; 29:315-318.
  2. Patel H, Cross H, Proukakis C, et al. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 2002; 31:347-348.
  3. Spiegel R, Soiferman D, Shaag A, Shalev S, Elpeleg O, Saada A. Novel homozygous missense mutation in spg20 gene results in Troyer syndrome associated with mitochondrial cytochrome c oxidase deficiency. JIMD Rep 2017; 33:55-60.
  4. Auer-Grumbach M, Fazekas F, Radner H, Irmler A, Strasser-Fuchs S, Hartung HP. Troyer syndrome: a combination of central brain abnormality and motor neuron disease? J Neurol 1999; 246:556-561.

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