/hereditary spastic paraplegia 26

hereditary spastic paraplegia 26

Rare Disease

MONDO:0012213

Also Known As

GM2 synthase deficiencySPG26autosomal recessive spastic paraplegia 26autosomal recessive spastic paraplegia type 26hereditary spastic paraplegia type 26spastic paraplegia 26spastic paraplegia 26, autosomal recessive

Definition

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.