Orphanet: Autosomal recessive spastic paraplegia type 23

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Autosomal recessive spastic paraplegia type 23

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Lison syndrome
    • SPG23
    • Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 270750
  • UMLS: C0796019
  • MeSH: -
  • GARD: 336
  • MedDRA: -

Detailed information

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