Hereditary spastic paraplegia type 54 (SPG54)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 54 (SPG54). This is caused by mutations in the DDHD2 gene on chromosome 8p. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain: features

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Magnetic resonance spectroscopy (MRS): features

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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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