hereditary spastic paraplegia 93

A hereditary spastic paraplegia that has_material_basis_in homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.

Signs and symptoms

• Clonus
• Hypoesthesia
• Elevated brain choline level by MRS
• Hypotonia
• Elevated brain lactate level by MRS
• Reduced brain N-acetyl aspartate level by MRS
• Lower limb spasticity
• Progressive spastic paraplegia
• Paraplegia
• Respiratory failure

Also known as: autosomal recessive spastic paraplegia 93