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Table 1 Summarising the FUS mutations and clinical features in the 7 cases

From: ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

Case Exon ∆Nucleotide ∆Protein Age at death (yrs) Sex Duration (months) UMN LMN Limb/Bulbar Cog decline
1 14 c.1483C>T p.R495X 34 F 9 Yes Yes L No
2 14 c.1528A>G p.K510E 39 M 15 Yes Yes B No
3 15 c.1561C>T p.R521C 33 M 10 NA Yes NA No
4† 15 c.1561C>T p.R521C 35 F 7 Yes Yes B No†
5 15 c.1562G>A p.R521H 35 F >36 NA Yes L No
6a 15 c.1574C>T p.P525La 23 F 8 Yes Yes L No
7 15 c.1540A>G p.R514G 60 M >96 NA Yes B No
  1. Mutations identified in the gene encoding FUS (Refseq: NM_004960). cDNA location using +1 from the ATG start site
  2. aCase 6 also carried a previously described p.Y374X TARDBP mutation (cDNA position c.1119_1120delTT). † Learning difficulties noted in clinical records
  3. Cog Cognitive, NA Not available, LMN Lower motor neuron signs, UMN upper motor neuron signs