Hereditary spastic paraplegia (HSP): investigations

Evidence-based neurology checklist on hereditary spastic paraplegia (hsp): investigations: Indications for specific HSP genetic tests SPG4: Autosomal dominant transmission and positive family history SPG3: SPG4 negative and age of onset <20 years SPG 1 and 2: X linked or recessive transmission…

Indications for specific HSP genetic tests

  • SPG4: Autosomal dominant transmission and positive family history
  • SPG3: SPG4 negative and age of onset <20 years
  • SPG 1 and 2: X linked or recessive transmission with typical radiology
  • SPG 11 followed by SPG 12: Autosomal recessive with thin corpus callosum (TCC)
  • SPG 7: Autosomal recessive with cerebellar features
  • Test SPG 4 followed by SPG7 in apparently sporadic transmission

Blood investigations

Other investigations

References

  1. Gassera T, Finstererb J, Baetsc J, et al. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010, 17:179–188.
  2. Hensiek A, Kirker S, Reid E. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. J Neurol 2015; 262:1601-1612.
  3. White KD, Ince PG, Lusher M, et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 2000; 55:89-94.

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