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. 2021 Sep 19;11(9):1239. doi: 10.3390/brainsci11091239

Figure 1.

Figure 1

Flow chart of the genetic characterization of FTD and/or ALS patients in the cohort we analyzed. Most (115 out of the 130) patients were analyzed by C9orf72 repeat expansion analysis as the initial test. Subsequently, 81 of the 101 C9orf72 repeat expansion negative patients were analyzed by WES (whole exome sequencing). For 14 patients, WES was chosen as the initial test, and for 1 (with a pathogenic variant in the VCP gene), targeted gene sequencing was performed initially due to clinical picture and family history highly suggestive of inclusion body myopathy, Paget’s disease and FTD [23].