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.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
GM2 synthase deficiency
exact
SPG26
exact
autosomal recessive spastic paraplegia type 26
exact
hereditary spastic paraplegia type 26
exact
spastic paraplegia 26
related
spastic paraplegia 26, autosomal recessive
related