Hereditary spastic paraplegia type 46 (SPG46)

Evidence-based neurology checklist on hereditary spastic paraplegia type 46 (spg46): Genetics This is caused by mutations in the GBA2 gene on chromosome 9p The transmission is autosomal recessive Spasticity features Ophthalmic features Skeletal features Other features Magnetic resonance imaging…

Genetics

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

Spasticity features

Ophthalmic features

Skeletal features

Other features

Magnetic resonance imaging (MRI) brain: features

Nerve conduction studies (NCS): features

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.
  5. And 0 more. Subscribe to see the full list

Related checklists

Loading...