TABLE 1.

Clinical Details and Neuroanatomic Findings in Patients With Frontemporal Dementia (FTD) and C9ORF72 Expanded Repeats

Patient # and Sex	Age at Onset	Mode of Onset	Nature of Psychosis	Other bvFTD-Related Symptoms	Aphasia	Motor Neuron Disease	Neuroimaging Findings	Family History	FBI Score*	Age at Death, Autopsy Findings
1 Man	57	Behavior change	Visual hallucinations, psychotic delusions	Food, poor hygiene, impulsiveness, indifference	Anomia	No	Left parietal, bifrontal, and temporal atrophy	Brother (Patient 2) had FTLD-U; mother and maternal uncle had early-onset dementia, probably FTD; maternal aunt had ALS	45
2 Man	52	Behavior change		Food, poor hygiene, indifference, compulsions	Echolalia	No	No testing	Brother (Patient 1) had FTD; same family history as Patient 1	43	59, FTLD-U + TDP-43 type B
3 Man	43	Behavior change		Food, poor hygiene, irritability, indifference	Anomia, conduction	Possible bulbar	Left > right frontal and temporal atrophy	Maternal uncle had Pick disease	42	46, declined
4 Man	56	Behavior change	Auditory hallucinations	Food, irritability, indifference, compulsions	Mild anomia	Yes	Bifrontal and left temporal atrophy	No family history	32	60, declined
5 Woman	53	Depression	Bizarre delusions	Food, poor hygiene, indifference, inappropriate behaviors	Echolalia	No	Medial frontal and anterior temporal atrophy	Sister had ALS and cognitive deficits; mother had early-onset dementia	39
6 Man	67	Aphasia	Paranoid delusions	Food, compulsions, irritability, disinhibition, impulsiveness	Semantic paraphasias	No	Mild bifrontal, temporal, and parietal atrophy	Sister had FTD/ALS: FTLD-U TDP-43 type b	32
7 Man	52	Behavior change	Visual and auditory hallucinations	Food, poor hygiene, inappropriate behaviors, indifference, obsessions	Dysarthria	Yes	Right temporal and inferior frontal atrophy	Sister (Patient 8) had bvFTD; mother had ALS and suspected behavioral changes; 2 maternal uncles and 1 cousin had ALS; another maternal uncle had dementia	46
8 Woman	47	Behavior change	Visual and auditory hallucinations	Food, inappropriate behavior, compulsions	Decreased speech output	Yes	Bifrontal and right > left temporal atrophy	Brother (Patient 7) had bvFTD; same family history as Patient 7	46	64, FTLD-U +TDP-43 type B

^*A Frontal Behavioral Inventory score of 27 or higher is considered sensitive and specific for a diagnosis of bvFTD (Kertesz et al, 1997).

FBI = Frontal Behavioral Inventory. FTLD-U = frontotemporal lobar degeneration with ubiquitin-positive inclusions. ALS = amyotrophic lateral sclerosis. bvFTD = behavioral variant frontotemporal dementia. TDP-43 = transactive response DNA-binding protein 43 kDa (kiloDalton).