Hereditary spastic paraplegia type 46 (SPG46)

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

Hereditary spastic paraplegia type 46 (SPG46). This is caused by mutations in the GBA2 gene on chromosome 9p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the GBA2 gene on chromosome 9p
  • The transmission is autosomal recessive

Spasticity features

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Ophthalmic features

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Skeletal features

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Other features

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Magnetic resonance imaging (MRI) brain: features

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Nerve conduction studies (NCS): features

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References

  1. Boukhris A, Feki I, Elleuch N, et al. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics 2010; 11:441-448. 
  2. Martin E, Schüle R, Smets K, et al. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 2013; 92:238-244. 
  3. Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K. A novel GBA2 gene missense mutation in spastic ataxia. Ann Hum Genet 2014; 78:13-22. 
  4. Hammer MB, Eleuch-Fayache G, Schottlaender LV, et al. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet 2013; 92:245-251.

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