Article
Clinical and neuropathological features of ALS/FTD with TIA1 mutations.
Acta neuropathologica communications - 7 Dec 2017
Hirsch-Reinshagen Veronica, Pottier Cyril, Nicholson Alexandra M, Baker Matt, Hsiung Ging-Yuek R, Krieger Charles, Sengdy Pheth, Boylan Kevin B, Dickson Dennis W, Mesulam Marsel, Weintraub Sandra, Bigio Eileen, Zinman Lorne, Keith Julia, Rogaeva Ekaterina, Zivkovic Sasha A, Lacomis David, Taylor J Paul, Rademakers Rosa, Mackenzie Ian R A
Abstract excerpt
Mutations in the stress granule protein T-cell restricted intracellular antigen 1 (TIA1) were recently shown to cause amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD). Here, we provide detailed clinical and neuropathological descriptions of nine cases with TIA1 mutations, together with comparisons to sporadic ALS (sALS) and ALS due to repeat expansions in C9orf72 (C9orf72+). All...
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