Hereditary spastic paraplegia type 79 (SPG79)

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

Hereditary spastic paraplegia type 79 (SPG79). This is caused by mutations in the UCHL1 gene on chromosome 4p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the UCHL1 gene on chromosome 4p
  • The transmission is autosomal recessive
  • The onset is in childhood

Spinal features

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Central features

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Peripheral features

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Skeletal features

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Ophthalmologic features

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Magnetic resonance imaging (MRI) brain: features

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Neurophysiology tests

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References

  1. Rydning SL, Backe PH, Sousa MM, et al. Novel UCHL1 mutations reveal new insights into ubiquitin processing. Hum Mol Genet 2017; doi: 10.1093/hmg/ddx072 (Epub ahead of print).
  2. Nyberg-Hansen R, Refsum S. Spastic paraparesis associated with optic atrophy in monozygotic twins. Acta Neurol Scand Suppl 1972; 51:261-263. 
  3. Bilguvar K, Tyagi NK, Ozkara C, et al. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 2013; 110:3489-3494. 

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