Hereditary spastic paraplegia type 54 (SPG54)

Evidence-based neurology checklist on hereditary spastic paraplegia type 54 (spg54): Genetics This is caused by mutations in the DDHD2 gene on chromosome 8p The transmission is autosomal recessive It is an early onset HSP Clinical features Magnetic resonance imaging (MRI) brain: features Magnetic…

Genetics

  • This is caused by mutations in the DDHD2 gene on chromosome 8p
  • The transmission is autosomal recessive
  • It is an early onset HSP

Clinical features

Magnetic resonance imaging (MRI) brain: features

Magnetic resonance spectroscopy (MRS): features

References

  1. Gonzalez M, Nampoothiri S, Kornblum C, et al. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54). Eur J Hum Genet 2013; 21:1214-1218. 
  2. Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343:506-511. 
  3. Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, et al. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet 2012; 91:1073-1081.
  4. Zaidi SA, Saal HM, Espay AJ, Duker AP. The "broken wishbone" splenial sign: A diagnostic hallmark for SPG54 spastic ataxia. J Neurol Sci 2019; 403:114-116.
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