Table 1.

VCP mutations in ALS cases with onset and disease duration data. See also Table S2 for demographics and clinical details of ALS cases and controls screened for VCP mutations.

Pedigree*	Individual ID	Mutation†	Diagnosis	Age at onset	Site of onset	Cognitive impairment	Disease duration from onset (vital status)	ALP (U/L)	CPK (U/L)
ITALS#1	III:4	p.R191Q c.961G>A‡	ALS	51	Upper limb	No impairment. Not formally tested	Ventilated at 11 months (died at 29 months)	Normal	Normal
	III:8	p.R191Q c.961G>A	ALS	53	Upper & lower limbs	No impairment on formal testing	Ventilated at 34 months (alive)	Normal	Normal
	III:12	p.R191Q c.961G>A	ALS-FTD	50	Lower limb	Impaired on formal testing	Alive at 4·5 years	Normal	385
	IV:1	p.R191Q c.961G>A	ALS	37	Lower limb	No impairment on formal testing	Alive at 4 years	Normal	500–900
USALS#1	III:4	p.R159G c.864C>G	ALS-FTD	53	Lower limb	Impaired on formal testing No impairment.	Ventilated at 24 months (alive)#	No data	No data
	III:6	p.R159G c.864C>G	ALS	46	Lower limb	Not formally tested No impairment.	Died after 5 years	Elevated	No data
Coriell#1	ND13215	p.R191Q c.961G>A	ALS	42	Lower limb	Not formally tested No impairment.	Alive at 12 years	No data	No data
Coriell#2	ND09607	p.D592N c.2163G>A	ALS	52	Bulbar	Not formally tested No impairment.	Died within one year	No data	No data
UP731	III:1¶	c.853G>A p.R155H	ALS	53	Upper limb	Not formally tested	Died at 39 months	Normal	Normal

^*see Figure 1 for pedigrees;

^†nucleotide position is based on NM_007126.3, and amino acid numbering is based on NP_009057.1; ALP, alkaline phosphatase; CPK, creatine phosphokinase;

^‡III:4 of family ITALS#1 is an obligate carrier of this mutation;

^#respiratory failure hastened by co-existing pulmonary disease;

^¶III:1 of family UP731 is an obligate carrier of this mutation.