Abstract
Frontotemporal lobar degeneration (FTLD) is a common form of dementia that usually afflicts patients in their mid-life. Clinically, patients with FTLD present with changes in behavior and/or language dysfunction. According to their underlying neuropathological substrate, these neurodegenerative conditions can now be classified into two main groups: those with tau pathology (tauopathies), and those without tau pathology. In the majority of nontauopathy disorders the recently identified TAR DNA-binding protein-43 (TDP-43) is found as the major inclusion protein (TDP-43 proteinopathies), and TDP-43 is also present in motor neuron inclusions of amyotrophic lateral sclerosis. Presently, mutations in 4 genes (MAPT, PGRN, VCP, CHMP2B) are known to cause diverse types of FTLD pathology. Here, we summarize the recent neuropathological and genetic advances in FTLD research.
MeSH terms
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Adenosine Triphosphatases / genetics
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Adenosine Triphosphatases / metabolism
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Brain / pathology
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Cell Cycle Proteins / genetics
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Cell Cycle Proteins / metabolism
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / metabolism*
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Dementia / classification
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Dementia / genetics*
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Dementia / metabolism*
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Dementia / pathology
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Endosomal Sorting Complexes Required for Transport
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Humans
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Intercellular Signaling Peptides and Proteins / genetics
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Intercellular Signaling Peptides and Proteins / metabolism
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Mutation / genetics
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Nerve Tissue Proteins / genetics
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Nerve Tissue Proteins / metabolism
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Progranulins
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Tauopathies / classification
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Tauopathies / metabolism*
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Tauopathies / pathology
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Valosin Containing Protein
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tau Proteins / genetics
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tau Proteins / metabolism*
Substances
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CHMP2B protein, human
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Cell Cycle Proteins
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DNA-Binding Proteins
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Endosomal Sorting Complexes Required for Transport
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Intercellular Signaling Peptides and Proteins
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Nerve Tissue Proteins
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Progranulins
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tau Proteins
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Adenosine Triphosphatases
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VCP protein, human
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Valosin Containing Protein