Autosomal recessive spastic paraplegia type 23
Synonyms: Lison syndrome | SPG23 | Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Autosomal recessive spastic paraplegia type 23?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
National Ataxia Foundation
To accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia.
Clinical Trials
For a list of clinical trials in this disease area, please click here.