Thelansis

 The hereditary form of ATTR is caused by autosomal dominant mutations in the TTR gene. Amyloid formation is associated with the amyloidogenic mutations associated with destabilization and dissociation of the TTR tetramer, leading to abnormally folded monomers that ultimately self-assemble to amyloid fibrils. These TTR amyloid fibrils are then deposited extracellularly in various tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. The brain and spinal cord (central nervous system) are affected in some cases. ·    ...