PMC6293196_01
Elechtropherograms of the variants in KIF5A and ALS2 identified in the proband and his family. In the upper panel the black box indicates the proband affected by the juvenile onset of ALS while the light gray box indicates the mild ALS clinical phenotype of the proband father. A summary of the bioinformatic analysis results of the ALS2 variant is reported in the bottom part. As listed in the figure, the software used provide prediction of negative effects at the general and functional level. GERP Software provide information about the evolutionary conservation of the substituted amino acid residue.
fneur-09-01078-g0001.jpg
PMC6293196_01_fneur-09-01078-g0001.jpg
F1
The screening detected a homozygous variant in the ALS2 gene, c.575C>T, p.(Pro192Leu) (Figure 1).