Table 2.

Neurological signs and imaging findings in patients with C9ORF72 mutations

ID	Neurological signs				Imaging findings
	MND/type	Onset	Parkinsonism	Grasp reflexes	MR/CT atrophy	SPECT hypoperfusion
1	Yes/PBP	Bulbar	No	?	n/a	n/a
2	Yes/ALS	Bulbar	Yes	Left	Normal	Temporal L = R
3	Yes/ALS	Bulbar	No	Bilateral	n/a	n/a
4	Yes/ALS	Bulbar	No	?	n/a	n/a
5	Yes/ALS	Limb	Yes	Bilateral	General	Frontal = temporal L = R
6	Yes/PBP	Bulbar	No	No	Frontal > temporal R > L	n/a
7	Yes/ALS	Bulbar + limb	Yes	?	n/a	n/a
8	Yes/ALS	Bulbar + limb	No	?	n/a	n/a
9	Yes/ALS	Bulbar + limb	No	Bilateral	Frontal > temporal L > R	n/a
10	No	–	No	Bilateral	General	Frontal L = R
11	No	–	No	No	Normal	Frontal = temporal L = R
12	No	–	Yes	No	Temporal > frontal	n/a
13	No	–	No	No	Temporal > frontal L > R	Temporal L > R
14	No	–	No	No	Frontal = temporal L = R	n/a
15	No	–	No	Bilateral	n/a	Frontal = temporal L = R
16	No	–	No	Bilateral	n/a	n/a
17	No	–	No	No	n/a	Frontal = temporal L > R
18	No	–	No	No	Temporal L = R	n/a
19	No	–	No	Bilateral	Normal	Frontal = temporal
20	No	–	No	Bilateral	Frontal = temporal	n/a
21	No	–	No	No	Temporal L	n/a
22	No	–	No	Bilateral	Temporal > frontal	Temporal > frontal L > R
23	No	–	Yes	No	Normal	n/a
24	No	–	Yes	Bilateral	Normal	Frontal = temporal L > R
25	No	–	No	No	Frontal L = R	n/a
26	No	–	No	No	Normal	n/a
27	No	–	No	No	Normal	Frontal = temporal
28	No	–	No	Bilateral	Frontal L = R	Frontal = temporal L = R
29	No	–	No	No	Frontal = temporal L > R	Frontal = temporal L > R
30	No	–	Yes	No	n/a	Frontal > temporal L > R
31	No	–	No	No	Temporal L > R	Normal
32	No	–	Yes	Bilateral	Frontal = temporal L > R	Frontotemporal > parietal L

ALS = amyotrophic lateral sclerosis; CT = computed tomography; L = left; MR = magnetic resonance; n/a = not available; PBP = progressive bulbar palsy; R = right; SPECT = single photon emission computed tomography.