autosomal recessive sensory neuropathy with spastic paraplegia

A hereditary sensory and autonomic neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene on chromosome 5p15.2.

Signs and symptoms

• Clonus
• Babinski sign
• Atrophy of the spinal cord
• Distal amyotrophy
• Spastic gait
• Decreased circulating apolipoprotein B concentration
• Decreased amplitude of sensory action potentials
• Hypotriglyceridemia
• Distal sensory impairment of all modalities
• Hyperreflexia