Hereditary spastic paraplegia type 68 (SPG68)

Evidence-based neurology checklist on hereditary spastic paraplegia type 68 (spg68): Genetics This is caused by mutations in the FLRT1 gene on chromosome 11q The transmission is autosomal recessive Clinical features Synonym

Genetics

  • This is caused by mutations in the FLRT1 gene on chromosome 11q
  • The transmission is autosomal recessive

Clinical features

Synonym

References

  1. Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343:506-511. 
  2. Melo US, Macedo-Souza LI, Figueiredo T, et al. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet 2015; 24:6877-6885. 

Related checklists

Loading...