查看文章

Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disease that typically presents as progressive behavioral changes or language deficits; and is associated with atrophy and hypometabolism in the frontal and temporal lobes. Amyotrophic lateral sclerosis (ALS) is a devastating degenerative disease that selectively involves upper and lower motor neurons. In recent years, these two neurodegenerative disorders have been found to share a common pathophysiological process, transactive response DNA binding protein 43 kDa (TDP-43) proteinopathy. Several mutations in the TARDBP (TAR DNA binding protein) gene have been shown to cause familial ALS (1, 2), sporadic and familial FTLD-ALS (3, 4), and pure FTLD (5, 6). Here we report diverse clinical features of FTLD-ALS in three family members carrying a single missense mutation of the TARDBP gene.