Hereditary spastic paraplegia type 82 (SPG82)
Evidence-based neurology checklist on hereditary spastic paraplegia type 82 (spg82): Genetics This is caused by mutations in the PCYT2 gene The gene is on chromosome 17 The mutation results in impaired ether lipid biosynthesis The transmission is autosomal recessive It is a complex HSP…
Genetics
- This is caused by mutations in the PCYT2 gene
- The gene is on chromosome 17
- The mutation results in impaired ether lipid biosynthesis
- The transmission is autosomal recessive
- It is a complex HSP
Neurological features
Skeletal features
Ophthalmic features
Magnetic resonance imaging (MRI) brain
References
- Vaz FM, McDermott JH, Alders M, et al. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain 2019; 142:3382-3397.
- Kaiyrzhanov R, Wortmann S, Reid T, et al. Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain 2021; 144:e30.
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