Table 3.

Patients with two major ALS gene variants.

Patient ID	Age of onset (age range group, years)	Duration before the 1st exam	Early signs and symptoms	Symptoms	Gene	Variant	PopMax MAF (ExAc)	dbSNP	Pathogenicity (ACMG)	Other disease
#73u	65-70	1.5 y	Tetraparesis	B, PB ++, LMN ++, UMN +++	SQSTM1	p.E389Q	0	rs1391182750	VUS	Paget disease, Hyperparathyreodism, Hypothyreodism, Colon cancer (operated)
					SIGMAR1	p.I42R	0	rs1206984068	VUS
#85u	60-65	6 months	Four extremity weakness with spasticity with muscle atrophy and fasciculations, especially in the interosseus muscles	B, PB +, LMN ++, UMN ++	CCNF	p.L106V	0	rs990719669	VUS
					KIF5A	p.E758K	5.54×10–4	rs140281678	VUS
#90u	35-40	6 months	Psychomotor activity was slowing down, corticospinal tract lesion signs bilaterally	Memory loss, dementia.B, PB+, LMN ++, UMN +++	TBK1	p.K631del	3.73×10–3	–	VUS	–
					NEK1	p.R261H		rs200161	VUS
#99u	55-60	8 months	Dysarthria	B, PB +++, LMN ++, UMN+	NEK1	p.N250S	0	rs368762503	VUS	Hypothyreoidism
					C9orf72	Repeat expansion	0	–	Pathogenic
#106u	50-55	9 months	Four extremity weakness with spasticity	B, PB –, UMN+++, LMN+++	GRN	p.C335R	0	–	VUS	Alcoholism, polyneuropathy, cervical myelopathy caused by CIII-IV-V. disc protrusions
					NEFH	p.P505L	0	rs1414968372	VUS
#108u	45-50	2 years	Dysarthria	UMN, B, PB+++	SQSTM1	p.R393Q		rs200551825	VUS	–
				LMN+++, UMN+++, B	C9orf72	Repeat expansion	0	–	Pathogenic

B, PB, Bulbar and pseudobulbar, UMN, upper motor neuron, LMN, lower motor neuron, PopMax MAF (ExAc), Maximal general minor allele frequency of the variant in the ExAc database; ACMG, guideline of the American College of Medical Genetics and Genomics; dbSNP, Single Nucleotide Polymorphism Database reference SNP ID number for the variant; VUS, variant of uncertain significance.