Table 1.

Demographic characterization of patients with pathogenic/likely pathogenic variants in FTLD-associated genes at UCSF and commercial clinical laboratory

Patient demographics	GRN		MAPT		C9orf72
	UCSF	Clinical laboratory	UCSF	Clinical laboratory	UCSF	Clinical laboratory
Agea (years)	62.95±7.0	60.9±6.9	55.1±10.8	59.1±10.7	60.9±7.2	59.3±10.0
Sex, n (%)
Male	8 (40)	9 (37.5)	4 (44.4)	9 (47.4)	33 (67.3)	170 (50.2)
Female	12 (60)	15 (62.5)	5 (55.6)	10 (52.6)	16 (32.7)	169 (49.8)
Total no.	20	24	9	19	49	344b

^aNotes: Age for the UCSF cohort was defined as age at the first visit. Age for Quest cohort is age when testing was performed.

^bSex was unavailable for five patients in the commercial clinical laboratory cohort. in the GRN mutations in the UCSF cohort, 85% (n=17) of patients had autosomal dominant family history of dementia (at least one first-degree relative), 10% (n=2) had family history unknown, and 5% (n=1) were negative for a family history of dementia. in patients with pathogenic mutations in MAPT in the UCSF cohort, 88% (n=8) had an autosomal dominant family history of dementia (at least one first-degree relative) and 12% (n=1) had a negative family history. in patients with pathogenic C9orf72 expansions in the UCSF cohort, 51% (n=25) had an autosomal dominant family history of dementia (at least one first-degree relative), 33% (n=16) had a negative family history, and 14% (n=7) had an unknown family history. Family history data were not available for the commercial laboratory cohort.

Abbreviations: FTLD, frontotemporal lobar degeneration; UCSF, University of California, San Francisco.