/hereditary spastic paraplegia 57

hereditary spastic paraplegia 57

Rare Disease

MONDO:0014295

Also Known As

SPG57TFG hereditary spastic paraplegiaautosomal recessive spastic paraplegia 57autosomal recessive spastic paraplegia type 57hereditary spastic paraplegia caused by mutation in TFGhereditary spastic paraplegia type 57spastic paraplegia due to partial TFG deficiencyspastic paraplegia 57, autosomal recessive

Definition

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.