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 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

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.

Related checklists

• Hereditary spastic paraplegia (HSP): summary of key features
• Hereditary spastic paraplegia (HSP): clinical features
• Hereditary spastic paraplegia (HSP): radiological features
• Hereditary spastic paraplegia (HSP): differential diagnosis