Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease

Table 1 Neuropsychiatric features reported in C9orf72 expansion carriers

	UCSF MAC^a		Snowden and colleagues[4]	Mahoney and colleagues[6]	Hsiung and colleagues[17]	Boeve and colleagues[7]	Chio and colleagues[20]	Simón-Sanchez and colleagues[23]	Byrne and colleagues[18]
Phenotype of carriers^b	14 bvFTD		19 bvFTD, 1 SD/FTD, 3 PNFA	12 bvFTD, 1 PNFA	15 bvFTD	16 bvFTD	-	28 bvFTD 7 PPA	-
		11 FTD-MND	9 FTD-MND	3 FTD-MND	7 FTD-MND	3 FTD-MND	30 FTD-MND	6 FTD-MND, 1 PPA-MND	10 FTD-MND
					8 ALS	1 ALS	36 ALS	-	11 ALS
Controls (noncarriers)^c	45 bvFTD	19 FTD-MND	366 noncarriers	NA	NA	NA	NA^d	NA	166 ALS (± FTD)
Number screened	648		398	234	22	604	182	363	435
Assessment method	RCR and NPI		Structured pro-forma	RCR	RCR	RCR	FSBS and RCR^e	RCR	FSBS
Disinhibition	85%	63%	66%	63 → 76%	40 → 70%	NA	13%^e	26%	NA
Apathy/inertia	64%	36%	88%	49 → 63%	30 → 47%	NA	100%^e	43%	NA
Loss of sympathy/empathy	57%	45%	77%	~12 → ~18%	NA	NA	NA	NA	NA
Perseverative/compulsive behavior	50% repet., 50% comp.	18% repet., 54% comp.	75% repet./stereotypic	~25 → 50% obsessive	27 → 50% rigidity/persev.	NA	1.5% acute OCD	12% OCD	NA
Hyperorality	50%	27%	43%	NA	NA	100%	NA	NA	NA
Anxiety	NA	NA	NA	~39 → 52%	NA	NA	NA	NA	NA
Delusions	42%	36%	50%	0 → ~12%	3%	45%	4%^f	0	NA
Hallucinations	7%	9%	19%	~6 → ~12%	0	50%	4%^f	5%	NA
Lack of insight	NA	NA	78%	NA	NA	NA	NA	NA	NA

Reported at first assessment (UCSF MAC and [4, 23]), during course of disease [7, 20] or at first and final evaluation [6, 17]. Byrne and colleagues did not report frequencies [18]. Number before arrow, frequency at first assessment; number after arrow, frequency at last assessment. ALS, amyotrophic lateral sclerosis; bvFTD, behavioral variant frontotemporal dementia; comp., compulsive; C9orf72, chromosome 9 open reading frame 72; FSBS, Frontal Systems Behavior Scale; FTD, frontotemporal dementia; MND, motor neuron disease; NA, not available; NPI, Neuropsychiatric Inventory; OCD, obsessive-compulsive disorder; persev., perseverative; PNFA, progressive nonfluent aphasia; PPA, primary progressive aphasia; RCR, retrospective chart review; repet., repetitive; SD, semantic dementia; UCSF MAC, University of California, San Francisco Memory and Aging Center. ^aBased on data collected for Sha and colleagues [5], but not included in the final manuscript. ^bNumber of patients included in symptom frequency analysis. ^cControls used for comparison of clinical features. ^dFifty-seven carriers with other ALS-causing mutations were used as controls for clinical features of MND, but not for behavioral changes. ^eTwenty-three of the 66 carriers were assessed with the FSBS (Family Rating Form) - percentages reflect only those evaluated with the scale. ^fFrequency of psychosis (hallucinations and/or delusions were reported in three out of 66 patients).

ISSN: 1758-9193