Table 1.

Characteristics of compound heterozygous mutations found in our patient in the SLC52A3 gene

Exon	Nucleotide	Amino acid change	Reference	Present in 900 controls	Present in 150 sALS	FATHMM prediction
5	c.1237 T>C	p.V413A	rs2676066871	No	No	Damaging
5	c.1381T>G	p.D461Y	rs140360713	No	No	Damaging

FATHMM, functional analysis through hidden Markov models (prediction software for the functional consequences of coding and non-coding variants); sALS, sporadic amyotrophic lateral sclerosis.