Table 1.

Molecular classification of FTLD with genetic and clinical correlations

major molecular class	pathological subtype*	associated genes†	associated clinical phenotypes
			bvFTD	PNFA	SD	park	MND
FTLD-tau		MAPT	+	(+)	(+)	+	ALS, PLS
	PiD		+	+	(+)
	CBD		+	+		+	PLS
	PSP		+	+		+	PLS
	AGD		+
	NFT-dementia		+
	MSTD		+			+	PLS
	WMT-GGI		+			+	PLS
FTLD-TDP		(TARDBP)	(+)			+	ALS
	type A	GRN	+	+		+
	type B	C9ORF72	+	+	(+)	+	ALS
	type C		+		+
	type D	VCP	+			(+)	ALS
FTLD-FUS		(FUS)	(+)				ALS
	aFTLD-U		+
	NIFID		+			+	PLS
	BIBD		+			+	ALS
FTLD-UPS
	FTD-3	CHMP2B	+			(+)	(ALS)
FTLD-ni

aFTLD-U, atypical frontotemporal lobar degeneration with ubiquitinated inclusions; AGD, argyrophilic grain disease; ALS, amyotrophic lateral sclerosis; BIBD, basophilic inclusion body disease; bvFTD, behavioral variant FTD; C9ORF72, chromosome 9 open reading frame 72 gene; CBD, corticobasal degeneration; CHMP2B, charged multivescicular body protein 2B gene; FTD, frontotemporal dementia; FTD-3, FTD linked to chromosome 3; FTLD, frontotemporal lobar degeneration; FUS, fused in sarcoma; GRN, progranulin gene; MAPT, microtubule associated protein tau gene; MND, motor neuron disease; MSTD, multiple system tauopathy with dementia; NFT-dementia, neurofibrillary tangle predominant dementia; ni, no inclusions; NIFID, neuronal intermediate filament inclusion disease; park, parkinsonism; PiD, Pick’s disease; PLS, primary lateral sclerosis; PNFA, progressive non-fluent aphasia; PSP, progressive supranuclear palsy; SD, semantic dementia; TARDBP, transactive response DNA binding protein gene; TDP, TDP-43; UPS, ubiquitin proteasome system; VCP, valosin containing protein gene; WMT-GGI, white matter tauopathy with globular glial inclusions.

^*indicates the characteristic pattern of pathology, not the clinical syndrome.

^†genes in which variation may cause or increase the risk of FTD with the corresponding FTLD pathological subtype.

(+) rare cause or unusual phenotype.