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Amyloid Neuropathy

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Biopsy Diagnosis of Peripheral Neuropathy

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Abstract

Amyloidosis is among the best known of the gain-of-toxic-function protein misfolding diseases. They are characterized by the accumulation and aggregation of nonfunctional and toxic proteins that damage cells and tissues (Blancas-Mejia and Ramirez-Alvarado 2013). Amyloid is detected as an extracellular proteinaceous substance that appears amorphous by light microscopy and fibrillar under the electron microscope. Amyloid fibrils differ from other protein aggregates because they show apple green-yellow birefringence when stained by Congo red and viewed with polarized light. Amyloid consists of beta-pleated sheet micelles forming matted linear non-branching fibrils, 7–10 nm in width. Each fibril comprises two filamentous subunits that run in parallel and twist about each other. The common constituents of all amyloid types are amyloid P component, an endogenous glycoprotein produced by the liver, and various mucopolysaccharides (Pepys 1986, 1990). Different amyloid types are distinguished by their major protein, which is the largest constituent of the deposit. To date there are 30 known extracellular proteins that fulfill the criteria for the designation of amyloid (Sipe et al. 2012), of which five affect the peripheral nervous system (AmTTR, AApoA, AGel, AL, and APrP). Amyloid is insoluble and highly resistant to proteolysis. Its gradual accumulation in a variety of locations ultimately results in clinical disease by mechanisms that have not been fully elucidated.

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Authors and Affiliations

  1. Sunnybrook and St Michael’s Hospitals, University of Toronto, Toronto, ON, Canada

    Juan M. Bilbao MD, FRCP (C) (Professor Emeritus of Neuropathology)

  2. Division of Neuropathology Department of Pathology, Washington University School of Medicine, St. Louis, MO, USA

    Robert E. Schmidt MD, PhD (Professor of Pathology and Immunology Director)

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  1. Juan M. Bilbao MD, FRCP (C)
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  2. Robert E. Schmidt MD, PhD
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Bilbao, J.M., Schmidt, R.E. (2015). Amyloid Neuropathy. In: Biopsy Diagnosis of Peripheral Neuropathy. Springer, Cham. https://doi.org/10.1007/978-3-319-07311-8_15

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