Hereditary spastic paraplegia type 45 (SPG45)

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

Hereditary spastic paraplegia type 45 (SPG45). This is caused by mutations in the NT5C2 gene on chromosome 10q. Fully referenced neurology checklist.

Genetics

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

Gait 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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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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