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

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
6^a	15	c.1574C>T	p.P525L^a	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

ISSN: 2051-5960