Hereditary spastic paraplegia type 45 (SPG45)

Evidence-based neurology checklist on hereditary spastic paraplegia type 45 (spg45): Genetics This is caused by mutations in the NT5C2 gene on chromosome 10q The transmission is autosomal recessive Gait features Ophthalmic features Skeletal features Other features Magnetic resonance imaging (MRI)…

Genetics

  • This is caused by mutations in the NT5C2 gene on chromosome 10q
  • The transmission is autosomal recessive

Gait features

Ophthalmic features

Skeletal features

Other features

Magnetic resonance imaging (MRI) brain: features

References

  1. Elsaid MF, Ibrahim K, Chalhoub N, Elsotouhy A, El Mudehki N, Abdel Aleem A. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup. BMC Med Genet 2017; 18:33. 
  2. Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics 2009; 10:325-231.
  3. Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343:506-511. 

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