Research Topic

Updating Amyloid Neuropathy Knowledge: From Diagnosis to Treatment

About this Research Topic

Amyloidoses are a group of disorders resulting from extracellular and/or intracellular deposition of insoluble abnormal amyloid aggregates in various tissues. There are many different types of amyloidosis, some hereditary others caused by external factors. The different types of amyloid are classified by the precursor plasma protein that composes the amyloid fibrils. Hereditary forms include transthyretin (TTR), apolipoprotein A1, gelsolin, lysozyme, fibrinogen, amyloid-β, and cystatin C. Acquired forms arise from misfolded monoclonal κ or λ light chains in primary systemic amyloid (AL), serum amyloid A protein in secondary amyloidosis (AA), and β2-microglobulin (β2M) in dialysis-associated amyloidosis, deposition of wild type TTR in sporadic ATTRw amyloidosis (previously known as senile systemic amyloidosis). Depending on the etiology, amyloid deposits can affect a variety of organ systems. Most commonly, they affect the kidneys, liver, heart, and peripheral nerves. Amyloid deposition within the nerve leads to focal, multifocal, or diffuse neuropathies involving sensory, motor and/or autonomic fibers. One the most common presentations is a length-dependent sensorimotor neuropathy, but atypical phenotypes including predominant upper limb neuropathy, pure small fiber neuropathy, and carpal tunnel syndrome (CTS) often lead to delayed diagnosis.

The recent introduction of new therapeutic strategies for AL amyloidosis and hATTR amyloidosis, including proteasome inhibitors, TTR silencers, and TTR protein stabilizers, require neurologists to play a predominant role in the early identification of neurologic manifestations of systemic amyloidosis, leading to earlier diagnosis and treatment. Identification of a diagnostic algorithm based on initial red flag symptoms and manifestations of neurologic involvement in association with other systemic signs facilitates an early and accurate diagnosis. The purpose of this Research Topic is to raise awareness of neuropathy, raise clinical suspicion in the presence of signs and symptoms indicative of amyloidosis, and promote appropriate testing. In particular, a deeper knowledge of the different clinical phenotypes of neuropathy associated with the different forms of amyloidosis could help with better diagnostic definition, and possibly to an earlier and more targeted treatment.

This Research Topic will contribute to better characterize the complex and variable phenotypes of the acquired amyloid neuropathies, and will delineate phenotype/genotype correlation in the hereditary forms. The contributions will also propose a correct diagnostic algorithm for both hereditary and acquired forms, as well as outline their correct therapeutic management.

For this Topic we welcome submissions of Original Research, Systematic Reviews, Brief Research Reports, and Case Series regarding potential topics including, but not limited to, the following:

• Case series that investigate the heterogeneity of clinical manifestations in the different forms of amyloid neuropathy;

• Association between genetic mutations and clinical phenotypes of hereditary amyloid neuropathies;

• New advances in diagnostic tools for neuropathy associated with systemic amyloidosis;

• Current treatment strategies and recent advances in therapeutic management of amyloid neuropathies.


Keywords: Amyloid neuropathy, Systemic amyloidosis, Acquired amyloid neuropathy, Hereditary amyloid neuropathy, Diagnosis of amyloid neuropathy, Treatment of amyloid neuropathy


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Amyloidoses are a group of disorders resulting from extracellular and/or intracellular deposition of insoluble abnormal amyloid aggregates in various tissues. There are many different types of amyloidosis, some hereditary others caused by external factors. The different types of amyloid are classified by the precursor plasma protein that composes the amyloid fibrils. Hereditary forms include transthyretin (TTR), apolipoprotein A1, gelsolin, lysozyme, fibrinogen, amyloid-β, and cystatin C. Acquired forms arise from misfolded monoclonal κ or λ light chains in primary systemic amyloid (AL), serum amyloid A protein in secondary amyloidosis (AA), and β2-microglobulin (β2M) in dialysis-associated amyloidosis, deposition of wild type TTR in sporadic ATTRw amyloidosis (previously known as senile systemic amyloidosis). Depending on the etiology, amyloid deposits can affect a variety of organ systems. Most commonly, they affect the kidneys, liver, heart, and peripheral nerves. Amyloid deposition within the nerve leads to focal, multifocal, or diffuse neuropathies involving sensory, motor and/or autonomic fibers. One the most common presentations is a length-dependent sensorimotor neuropathy, but atypical phenotypes including predominant upper limb neuropathy, pure small fiber neuropathy, and carpal tunnel syndrome (CTS) often lead to delayed diagnosis.

The recent introduction of new therapeutic strategies for AL amyloidosis and hATTR amyloidosis, including proteasome inhibitors, TTR silencers, and TTR protein stabilizers, require neurologists to play a predominant role in the early identification of neurologic manifestations of systemic amyloidosis, leading to earlier diagnosis and treatment. Identification of a diagnostic algorithm based on initial red flag symptoms and manifestations of neurologic involvement in association with other systemic signs facilitates an early and accurate diagnosis. The purpose of this Research Topic is to raise awareness of neuropathy, raise clinical suspicion in the presence of signs and symptoms indicative of amyloidosis, and promote appropriate testing. In particular, a deeper knowledge of the different clinical phenotypes of neuropathy associated with the different forms of amyloidosis could help with better diagnostic definition, and possibly to an earlier and more targeted treatment.

This Research Topic will contribute to better characterize the complex and variable phenotypes of the acquired amyloid neuropathies, and will delineate phenotype/genotype correlation in the hereditary forms. The contributions will also propose a correct diagnostic algorithm for both hereditary and acquired forms, as well as outline their correct therapeutic management.

For this Topic we welcome submissions of Original Research, Systematic Reviews, Brief Research Reports, and Case Series regarding potential topics including, but not limited to, the following:

• Case series that investigate the heterogeneity of clinical manifestations in the different forms of amyloid neuropathy;

• Association between genetic mutations and clinical phenotypes of hereditary amyloid neuropathies;

• New advances in diagnostic tools for neuropathy associated with systemic amyloidosis;

• Current treatment strategies and recent advances in therapeutic management of amyloid neuropathies.


Keywords: Amyloid neuropathy, Systemic amyloidosis, Acquired amyloid neuropathy, Hereditary amyloid neuropathy, Diagnosis of amyloid neuropathy, Treatment of amyloid neuropathy


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

16 August 2021 Abstract
14 December 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

16 August 2021 Abstract
14 December 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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