Spatacsin

Spatacsin is the acronym for "spasticity with thin or atrophied corpus callosum syndrome protein" and refers to a protein that contains 2443 amino acids and is ubiquitously detectable in the organism. The highest expression levels are found in the liver, followed by the brain and ovary (Stevanin et al. 2007). Spatacsin is encoded by the SPG11 gene. The gene is ubiquitously expressed in the nervous system, but most prominently in the cerebellum, cerebral cortex, hippocampus, and pineal gland.

1. Del Bo R et al (2007) SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. Neurogenetics 8: 301-305
2. Perez-Branguli F et al (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum Molec Genet 23: 4859-4874
3. Stevanin G et al (2007) Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nature Genet 39: 366-372