Hereditary spastic paraplegia 57

An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.

Also known as: SPG57, TFG hereditary spastic paraplegia, autosomal recessive spastic paraplegia type 57, hereditary spastic paraplegia caused by mutation in TFG, hereditary spastic paraplegia type 57, spastic paraplegia due to partial TFG deficiency, spastic paraplegia 57, autosomal recessive

2 clinical trials for this condition and its sub-types, 0 tagged with Hereditary spastic paraplegia 57 itself.