Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

Table 1 FTD-genes analysed in this study

	Genes	Type of variant	Clinical phenotype	Pathology	Type of association	Ref
Pure FTD-genes	MAPT	exonic/intronic point mutations	bvFTD; FTD-17	FTLD-Tau	mendelian	3, 11
		small/large indels
		missense
	GRN	non-sense	bvFTD; PNFA	FTLD-TDP		3, 11
		missense
		frame-shift
		large deletions
	CHMP2B	non-sense	FTD3	FTLD-UPS		3, 11
	CHMP2B	missense	FTD3	FTLD-UPS		3, 11
	RAB38	unknown	bvFTD	unknown	from GWAS	16
	CTSC	unknown	bvFTD	unknown
	BTNL2	unknown	bvFTD; PNFA; SD	unknown
	HLA-DRA	unknown	bvFTD; PNFA; SD	unknown
	HLA-DRB5	unknown	bvFTD; PNFA; SD	unknown
	TMEM106B	unknown	FTD	FTLD-TDP		14
Spectrum FTD-genes	C9orf72	expansion	ALS; ALS-FTD	FTLD-TDP	mendelian	12, 13
	VCP	missense	IBMPFD; ALS; FTD	FTLD-TDP		3, 11, 12
	SQSTM1	non-sense	PBD; ALS; FTD	FTLD-TDP		3, 11, 12
	SQSTM1	missense	PBD; ALS; FTD	FTLD-TDP
	UBQLN2	non-sense	MS; ALS; FTD	FTLD-TDP
	UBQLN2	missense	MS; ALS; FTD	FTLD-TDP
	OPTN	non-sense	PDB; ALS-FTD	FTLD-TDP
	OPTN	missense	PDB; ALS-FTD	FTLD-TDP
	TDP-43	missense	ALS; ALS-FTD	FTLD-TDP
	FUS	missense	ALS; ALS-FTD	FTLD-FUS
		frame-shift
		indel

The FTD-genes used in our analysis were divided into two groups: the pure and the spectrum genes. For each gene, the associated genetic variability, as well as the associated clinical and pathological features are summarized
bvFTD behavioural variant FTD, FTD-17 frontotemporal dementia linked to chromosome 17, PNFA progressive non-fluent aphasia, FTD3 frontotemporal dementia linked to chromosome 3, SD semantic dementia, ALS amyotrophic lateral sclerosis, IBMPFD Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, PBD Paget’s disease of bone, MS multiple sclerosis

ISSN: 1750-1326