Table 1.
Summarising the FUS mutations and clinical features in the 7 cases
| 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 |
Mutations identified in the gene encoding FUS (Refseq: NM_004960). cDNA location using +1 from the ATG start site
aCase 6 also carried a previously described p.Y374X TARDBP mutation (cDNA position c.1119_1120delTT). † Learning difficulties noted in clinical records
Cog Cognitive, NA Not available, LMN Lower motor neuron signs, UMN upper motor neuron signs