Spotlight on Hereditary amyloid polyneuropathy

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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Spotlight on Primary systemic amyloidosis: neurologic complications

Amyloidosis is a generic term and refers to the extracellular deposition of fibrils composed of low weight chain of a variety of normal serum proteins.

Amyloid neuropathy remains a serious, usually rapidly fatal disease. However, in this updated article, Dr. John Kelly and Dr. Elham Bayat of George Washington University discuss evidence indicating that peripheral blood stem cell transplantation has proven to be effective treatment in carefully chosen patients. Patients with limited organ involvement have shown a good response to autologous hematopoietic cell transplantation with prolongation of survival. Early hematopoietic cell transplantation in well-selected patients is the current treatment of choice for amyloid neuropathy. Thus, early diagnosis and referral for treatment is essential before the disease spreads to multiple organs. Prognosis has improved with the use of early mortality risk scores to recognize those patients most at risk for early death. Diagnosis is still based on discovery of amyloid deposits in tissue biopsy identified by immunohistochemistry, but new techniques, such as mass spectrometry, show promise in determining amyloid types. Neurologists, who are most likely to see patients with neuropathy only, are in a favorable position to make an early diagnosis. The discussion of the clinical presentation and laboratory findings in this article can aid in early recognition of this disease.

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