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Updated: Mar 7, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy
Natalie J Galant1, Per Westermark2, Jeffrey N Higaki3
1Princess Margaret Cancer Centre, University Health Network, Department of Medical Biophysics, University of Toronto, TMDT 4-305, 101 College Street, Toronto, Ontario, Canada M5G 1L7.
Abstract:
Transthyretin (TTR) amyloidosis (ATTR amyloidosis) is an underdiagnosed and important type of cardiomyopathy and/or polyneuropathy that requires increased awareness within the medical community. Raising awareness among clinicians about this type of neuropathy and lethal form of heart disease is critical for improving earlier diagnosis and the identification of patients for treatment. The following review summarizes current criteria used to diagnose both hereditary and wild-type ATTR (ATTRwt) amyloidosis, tools available to clinicians to improve diagnostic accuracy, available and newly developing therapeutics, as well as a brief biochemical and biophysical background of TTR amyloidogenesis.
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