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Autosomal recessive spastic paraplegia type 26
Disease definition
Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
ORPHA:101006
Classification level: DisorderA summary on this disease is available in Deutsch (2015) Español (2016) Italiano (2016) Nederlands (2016) Polski (2016, pdf)
Detailed information
General public
- Article for general public
- Français (2015, pdf) - Fondation Groupama
- Svenska (2020) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
Disability
- Disability factsheet
- Français (2018, pdf) - Orphanet


Additional information