Autosomal recessive spastic paraplegia type 23

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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 September 2023.

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Autosomal recessive spastic paraplegia type 23?

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Advocacy Organizations

Eleanor Kaplan Foundation Inc.

The Eleanor Kaplan Foundation or TeamLeni, is a 501c3 to raise awareness, fund and establish research programs and develop curative therapeutics for SPG49 and all TECPR2 related disorders.

Eleanor Kaplan Foundation Inc.

The Eleanor Kaplan Foundation or TeamLeni, is a 501c3 to raise awareness, fund and establish research programs and develop curative therapeutics for SPG49 and all TECPR2 related disorders.

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.