Pathology and genetics of frontotemporal lobar degeneration: an update.
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.
Tolnay
M
M
Department of Neuropathology, Institute of Pathology, University Hospital Basel, Basel, Switzerland. mtolnay@uhbs.ch
Frank
S
S
D000251:Adenosine Triphosphatases / Q000235:genetics / Q000378:metabolism; D001921:Brain / Q000473:pathology; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D003704:Dementia / Q000145:classification / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D056827:Endosomal Sorting Complexes Required for Transport; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D000077153:Progranulins; D024801:Tauopathies / Q000145:classification / Q000378:metabolism* / Q000473:pathology; D000074405:Valosin Containing Protein; D016875:tau Proteins / Q000235:genetics / Q000378:metabolism*
C503812:CHMP2B protein, human; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D056827:Endosomal Sorting Complexes Required for Transport; D036341:Intercellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins; D000077153:Progranulins; D016875:tau Proteins; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein