Frontotemporal dementia: a bridge between dementia and neuromuscular disease
| Autor: | Ng, Adeline SL, Rademakers, Rosa, Miller, Bruce L |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
amyotrophic lateral sclerosis
General Science & Technology C9ORF72 Neurodegenerative frontotemporal dementia Chromosomes Open Reading Frames Rare Diseases mental disorders Genetics Acquired Cognitive Impairment Humans 2.1 Biological and endogenous factors Motor neuron disease Aetiology Neurosciences nutritional and metabolic diseases Neuromuscular Diseases neuromuscular disease Brain Disorders nervous system diseases Frontotemporal Dementia (FTD) Neurological Dementia Human medicine ALS Human Pair 9 |
| Zdroj: | Annals of the New York Academy of Sciences Annals of the New York Academy of Sciences, vol 1338, iss 1 |
| ISSN: | 0077-8923 |
| Popis: | The concept that frontotemporal dementia (FTD) is a purely cortical dementia has largely been refuted by the recognition of its close association with motor neuron disease, and the identification of transactive response DNA-binding protein 43 (TDP-43) as a major pathological substrate underlying both diseases. Genetic findings have transformed this field and revealed connections between disorders that were previous thought clinically unrelated. The discovery that the C9ORF72 locus is responsible for the majority of hereditary FTD, amyotrophic lateral sclerosis (ALS), and FTD-ALS cases and the understanding that repeat-containing RNA plays a crucial role in pathogenesis of both disorders has paved the way for the development of potential biomarkers and therapeutic targets for these devastating diseases. In this review, we summarize the historical aspects leading up to our current understanding of the genetic, clinical, and neuropathological overlap between FTD and ALS, and include brief discussions on chronic traumatic encephalopathy (CTE), given its association with TDP-43 pathology, its associated increased dementia risk, and reports of ALS in CTE patients. In addition, we describe other genetic associations between dementia and neuromuscular disease, such as inclusion body myositis with Paget's disease and FTD. |
| Databáze: | OpenAIRE |
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