Hereditary spastic paraplegia 26

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.

Also known as: GM2 synthase deficiency, SPG26, autosomal recessive spastic paraplegia type 26, hereditary spastic paraplegia type 26, spastic paraplegia 26, spastic paraplegia 26, autosomal recessive

15 clinical trials for this condition and its sub-types.