Hereditary amyloidosis is a disease caused by mutations in the transthyretin gene that leads to systemic deposition of amyloid protein. Although patients have multisystem involvement of amyloidosis, cardiomyopathy and peripheral neuropathy with autonomic neuropathy are typically the most prominent disease manifestations and the primary drivers of disability and mortality. New small interfering RNA and antisense oligonucleotide therapies reduce the production of transthyretin protein and slow the progression of hereditary amyloid polyneuropathy and, in some cases, improve measures of neuropathy severity and associated disability.
Although hereditary transthyretin amyloidosis is a rare disease, it is an exciting model for developing new treatments for genetic disease in neurology and in medicine broadly.
In this article, Dr. Rebecca Traub of Columbia University discusses the clinical manifestations, biological basis, diagnosis, and management of hereditary amyloid polyneuropathy.
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