Spastic paraplegia 23
Alternate names
SPG 23; Spastic paraplegia and pigmentary abnormalities; Spastic paraplegia vitiligo premature graying and characteristic facies; Lison syndrome; Autosomal recessive spastic paraplegia type 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.
NIH genetic and rare disease info
Spastic paraplegia 23 is a rare disease.
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