De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

Table 4 Patient variant associations to ALS4 disease-associated modules

Comparisons	ALS4HsMod 77
ALS4 Patients (n = 2) versus Controls (n = 3)	0.02
Patient 2 (n = 1) versus Controls (n = 3)	0.01
Control SETX (n = 1) versus Controls (n = 3)	0.99

Significant p-values in bold. Patient 2 carries the p.Thr8Met variant reported here while Control SETX carries a p.Gly2172Asp variant, bioinformatically predicted to be benign

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