Table 1.

The profile of genes associated with Parkinsonism in FTD

		MAPT	PGRN	C9ORF72	CHMP2B	TARDBP	VCP	FUS
Chromosomal localization		17q21.32	17q.21.31	9p21.2	3p11.2	1p36.22	9p13.3	16p11.2
Inheritance		AD	AD	AD	AD	AD	AD	AD
Penetrance		Almost 100%	90% by 70 years	Probably high	UKN	UKN	Incomplete	UKN
Anticipation		0	+	++	UKN	UKN	UKN	UKN
Estimated mutation frequency in FTD		0–50%	3–26%	14–48%	<1%	<1%	<1%	<1%
Mean AAO (range)		49 years (25–76)	59 years (48–83)	55 years (33–75)	58 years (46–65)	54 years (40–69)	55 years (46–79)	43 years (30–60)
Mean DD (range)		7 years (2–30)	7 years (1–14)	4.5 years (3–10)	10 years (5–21)	3 years (1–5)	6 years (5–8)	3 years (3–7)
Most frequent initial Dx.		bvFTD ±P	bvFTD ±P	FTD/ALS	ALS, FTD	ALS, bvFTD	IBMPFD	FTD, ALS
Clinical Dx. during the disease course	Most frequent Dx.	FTD Parkinsonism	FTD CBS	FTD MND*	FTD Dementia	MND*	FTD MND*	FTD MND*
	Relatively common Dx.	Pyramidal signs PSP	Parkinsonism Pyramidal signs	Parkinsonism	Parkinsonism	FTD Parkinsonism	Dementia	Dementia
	Rare Dx.	CBS MND	MND Hallucinations	CBS	MND* Epilepsy	Dementia	Language impairment Parkinsonism	Parkinsonism
Prominent neuropathology		Tau	TDP-43	TDP-43, U	U	TDP-43	TDP-43	FUS

AAO=age at onset; AD=autosomal dominant; ALS=amyotrophic lateral sclerosis; bvFTD=behavioral variant frontotemporal dementia; DD=disease duration; Dx.=diagnosis; FTD=frontotemporal dementia; FUS=fused in sarcoma; IBMPFD= inclusion body myopathy and Paget’s disease of the bone and frontotemporal dementia; P=Parkinsonism; TDP-43=transactive DNA-binding protein; U=ubiquitin; UKN=unknown; 0=not present; (+)=present in some cases; (++)= frequent;

^*includes upper and lower motor neuron deficits.