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.
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.
