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.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
SPG57
exact
TFG hereditary spastic paraplegia
exact
autosomal recessive spastic paraplegia type 57
exact
hereditary spastic paraplegia caused by mutation in TFG
exact
hereditary spastic paraplegia type 57
exact
spastic paraplegia 57, autosomal recessive
related
spastic paraplegia due to partial TFG deficiency
exact