Table 2.

Patients with C9orf72 hexanucleotide repeat expansion.

Patient ID	Sex	Phenotype	Age at Onset	Age at Diagnosis	Family History	MRI	HMPAO-SPECT
1	F	FTD	61	63	Sister and 3 cousins ALS	Mild frontal atrophy and left sylvius and temporal pole.	NA
2	F	bvFTD	69	70	Mother with dementia	Mild frontal, temporal (L > R) and parietal atrophy	Frontal hypoperfusion (R > L) and right parietal
3	F	FTD-psychiatric symptoms	45	54	Mother FTD-ALS Maternal uncle ALS and aunt dementia	Mildfrontal atrophy and white matter lesions	Frontal hypoperfusion (L > R)
4	M	bvFTD	51	58	Mother ALS	Bilateral frontal strokes and frontal atrophy	NA
5	M	bvFTD with psychiatric symptoms	38	41	No	Frontal, temporal and parietal atrophy	NA
6	M	ALS	71	72	No	Mild global atrophy	NA
7	F	ALS	59	61	No	Frontal and parietal atrophy	NA
8	F	ALS	63	64	Sister ALS	NA	NA
9	F	ALS	42	43	Mother and 2 maternal aunts with ALS	NA	NA
10	M	FTD-ALS	48	50	Father with FTD	Diffuse atrophy, temporal > frontal	NA
11	F	FTD-ALS	43	44	Grandmother and 7/9 uncles with ALS; mother with dementia	Frontal, perisylvian atrophy (L > R), mild increase in signal intensity along the corticospinal tract	Diffuse frontal, temporal and parietal hypoperfusion
12	F	ALS	56	58	Mother with ALS; maternal cousin with ALS and C9orf72 (+)	Mild ischemic microangiopathy	NA
13	M	FTD-ALS	44	45	Mother and 2 maternal uncles with motor disorder	Frontotemporal atrophy	NA (DATSCAN+)
14	F	ALS	41	43	Father with dementia; paternal aunt with ALS	Midline cerebellar dysplasia	NA

ALS: amyotrophic lateral sclerosis; FTD: frontotemporal dementia; bv: behavioral variant; NA: non-available.