The important functional role of TDP-43 plays in amyotrophic lateral sclerosis-frontotemporal dementia

摘要

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 ALSFTD,not merely a secondary phenomenon.That several other genes associated with familial ALS and FTD,including C9ORF72.