Research Topic

The Role of Gene Mutations in the Neuropathology of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD)– Progress and Challenges

About this Research Topic

Over the last decade there has been an increase in research surrounding specific pathology related to gene mutations in ALS and FTLD. It has long been recognized that familial forms of these diseases can show hallmark pathologies related to the mutation, e.g. ALS-FUS or FTLD-MAPT. This has been expanded recently by the identification of the C9orf72 expansion and its characteristic pathology.

However, much still remains to be understood regarding the relationship between gene mutations, disease pathology and clinical manifestation. Some gene mutations result in aggregates of the protein product whereas others appear to cause of loss of function that alters down-stream pathways and affects processes such as RNA biology. Thorough neuropathological assessment of both common and rare or newly discovered gene mutations, may lead to further understanding of the disease processes both in familial and sporadic disease. Insights into gene linked pathology may open up new therapeutic targets for these, currently untreatable, diseases.

This Research Topic aims to examine the current knowledge and evidence around neuropathology related to gene mutations in ALS and FTLD - including diagnostic challenges - to provide further understanding of the link between cause and pathophysiology of disease.
Submissions of Original Research (or Brief Research Report), Case Reports and Reviews (or Mini-Review) are welcomed.


Keywords: Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Lobar Degeneration (FTLD), Neuropathology, Gene Mutation, Familial


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.

Over the last decade there has been an increase in research surrounding specific pathology related to gene mutations in ALS and FTLD. It has long been recognized that familial forms of these diseases can show hallmark pathologies related to the mutation, e.g. ALS-FUS or FTLD-MAPT. This has been expanded recently by the identification of the C9orf72 expansion and its characteristic pathology.

However, much still remains to be understood regarding the relationship between gene mutations, disease pathology and clinical manifestation. Some gene mutations result in aggregates of the protein product whereas others appear to cause of loss of function that alters down-stream pathways and affects processes such as RNA biology. Thorough neuropathological assessment of both common and rare or newly discovered gene mutations, may lead to further understanding of the disease processes both in familial and sporadic disease. Insights into gene linked pathology may open up new therapeutic targets for these, currently untreatable, diseases.

This Research Topic aims to examine the current knowledge and evidence around neuropathology related to gene mutations in ALS and FTLD - including diagnostic challenges - to provide further understanding of the link between cause and pathophysiology of disease.
Submissions of Original Research (or Brief Research Report), Case Reports and Reviews (or Mini-Review) are welcomed.


Keywords: Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Lobar Degeneration (FTLD), Neuropathology, Gene Mutation, Familial


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

03 September 2021 Abstract
31 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

03 September 2021 Abstract
31 December 2021 Manuscript

Participating Journals

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

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