Table 1.

Demographics and GALC genotypes of the KD and control brain cohort.

Case #	Condition	Symptom Onset Age	Age at Death		Sex	Race	PMI (hours)	GALC Genotype
			Year	Days				Exon #	Allele 1	Allele 2
1	Control		0	202	Male	AA	33	15	p.562Thr	p.562Thr
2	Control		1	182	Male		19	15	p.562IIe	p.562Thr
3	Control		1	263	Male	W	25	1	p.21Ala	p.21Pro
								7	p.248Asp	p.248Asn
								15	p.562Thr	p.562Ile
4	Control		40	11	Male		24	15	p.562Thr	p.562Thr
5	Infantile KD	2–3 month	0	294	Male	W	5	1	p.21Ala	p.21Pro
								5	p.184Cys	p.l84Arg
								7	p.248Asp	p.248Asn
								15		p.562Ile
								11–17	30 kb Del
6	Infantile KD	NA	1	141	Male	W	4	5	p.184Cys	p.184Cys
								11–17	30 kb Del	30 kb Del
7	Infantile KD	NA	1	270	Male		29	5	p.184Cys	p.184Cys
								11–17	30 kb Del	30 kb Del
8	Later-onset KD	13 year	40	118	Male	W	22	1	p.23X	p.23Ser
								4	p.117Met	p.117Leu
								5	p.184Cys	p.184Arg
								15	p.562Thr	p.562Thr

Amino acid change numbering starts from methionine residue of the first start codon of GALC cDNA. Activity reducing polymorphisms and KD-related mutations are highlighted in bold font. Null mutations are highlighted in bold italic font. Abbreviations: AA – African American; W – White; NA – Not available.