Hereditary spastic paraplegia type 39 (SPG39)

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

Hereditary spastic paraplegia type 39 (SPG39). This is caused by mutations in the PNPLA6 gene on chromosome 19p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PNPLA6 gene on chromosome 19p
  • The transmission is autosomal recessive

Related gene disorders

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Clinical features

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Differential diagnosis

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Magnetic resonance imaging (MRI) brain: features

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Nerve conduction studies (NCS)

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References

  1. Rainier S, Bui M, Mark E, et al. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 2008; 82:780-785.
  2. Synofzik M, Gonzalez MA, Lourenco CM, et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain 2014; 137:69-77. 

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