【摘 要】
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Tar DNA-binding protein 43 (TDP-43, encoded by the gene TARDBP) neuronal and glial inclusions have unified amyotrophic lateral sclerosis (ALS, ～97％ of all cases), a fatal adult onset motor neuron disease characterized by the selective loss of upper and lo
【机 构】
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Neuropathology Division, Department of Pathology, Johns Hopkins University School of Medicine, Balti
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Tar DNA-binding protein 43 (TDP-43, encoded by the gene TARDBP) neuronal and glial inclusions have unified amyotrophic lateral sclerosis (ALS, ～97％ of all cases), a fatal adult onset motor neuron disease characterized by the selective loss of upper and lower motor neurons, and frontotemporal dementia (FTD, and sporadic FTD (～45％ of all cases), a common form of dementia characterized by progressive deterioration in behavior, personality and/or language, into one disease spectrum. Although the majority of ALS-FTD cases are sporadic, identification of mutations in the TARDBP gene that cause familial ALS, strongly supports the idea that TDP-43 participates in the pathogenesis of ALS-FTD, not merely a secondary phenomenon. That several other genes associated with familial ALS and FTD, including C9ORF72, converge on TDP-43 proteinopathy as a key neuropathological hallmark further strengthens this view.
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