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Table 1 Patient characteristics

From: HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

Patient Clinical diagnosis Family history Genetic diagnosis Age of onset Disease duration Male/ Female Brain weight
1 bvFTD FTD C9ORF72 51,8 8,7 Male 960 g
2 bvFTD FTD C9ORF72 55,8 9,1 Male 1184 g
3 bvFTD FTD and ALS C9ORF72 66,4 8,1 Female 1060 g
4 bvFTD ALS and dementia C9ORF72 63,2 6,8 Female 958 g
5 bvFTD FTD and ALS C9ORF72 55,2 9,5 Male 1075 g
6 FTD N/A Progranulin (Gln200X) 60,6 5,5 Female 894 g
7 FTD FTD Progranulin (Ser82ValfsX174) 47,4 4,3 Female unknown
8 FTD FTD MAPT (G272 V) 42,6 8,4 Male 962 g
9 FTD FTD MAPT (P301L) 51,1 9,7 Male 887 g
10 ALS N/A unknown 70 1 Male 1428 g
11 ALS N/A unknown 65 2,2 Female 1125 g
12 ALS N/A unknown 75 1,1 Male 1255 g
13 ALS N/A C9ORF72 60 4,4 Female 1390 g
14 ALS N/A C9ORF72 66 3,5 Male 1275 g
15 ALS N/A C9ORF72 71 2,4 Female 1080 g
16 Non-demented N/A unknown N/A N/A Female 1080 g
17 Non-demented N/A unknown N/A N/A Male 1215 g
18 Non-demented N/A unknown N/A N/A Female 1139 g