Hereditary spastic paraplegia 23
Hereditary spastic paraplegia 23
Definition
Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
Also known as autosomal recessive complex spastic paraplegia caused by mutation in DSTYK, DSTYK autosomal recessive complex spastic paraplegia, hereditary spastic paraplegia type 23, Lison syndrome, spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome, spastic paraplegia 23, spastic paraplegia with pigmentary abnormalities, SPG23 — per MONDO