Hereditary spastic paraplegia type 79 (SPG79)
Evidence-based neurology checklist on hereditary spastic paraplegia type 79 (spg79): Genetics This is caused by mutations in the UCHL1 gene on chromosome 4p The transmission is autosomal recessive The onset is in childhood Spinal features Central features Peripheral features Skeletal features…
Genetics
- This is caused by mutations in the UCHL1 gene on chromosome 4p
- The transmission is autosomal recessive
- The onset is in childhood
Spinal features
Central features
Peripheral features
Skeletal features
Ophthalmologic features
Magnetic resonance imaging (MRI) brain: features
Neurophysiology tests
References
- Rydning SL, Backe PH, Sousa MM, et al. Novel UCHL1 mutations reveal new insights into ubiquitin processing. Hum Mol Genet 2017; doi: 10.1093/hmg/ddx072 (Epub ahead of print).
- Nyberg-Hansen R, Refsum S. Spastic paraparesis associated with optic atrophy in monozygotic twins. Acta Neurol Scand Suppl 1972; 51:261-263.
- Bilguvar K, Tyagi NK, Ozkara C, et al. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 2013; 110:3489-3494.
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