Table 1.

Clinical Information of 8 individuals with TBCD encephalopathy from the Faroe Island

	Family 1	Family 2		Family 3	Family 4	Family 5		Family 6
	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7	Case 8
Sex	Female	Male	Male	Male	Female	Female	Female	Female
Birth weight	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Apgar (5′/10′)	10/10	8/10	9/10	N.D.	N.D.	8/10	10/10	N.D.
Age at presentation	6 m	9 m	4 m	4 m	5 m	6 m	7 m	5 m
Age at death	20 m	4 y 8 m	27 m	22 m	3 y 9 m	10 m	11 m	3 y 2 m
Cause of death	Resp.	Resp.	Resp.	Resp.	Resp.	Resp.	i.sz./Resp.	Resp.
Presenting symptoms	DD, MH, RM	DD from 6 m, MH, RA	Suspected SZ, Sp	DD, Sp	DD, MH, RM	DD, MH, Sp, RA	DD, MH, RM, Sp	DD, RM
Developmental regression	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Secondary microcephaly/lowest OFC SD/age	N.D.	−2.2/47 m	−1.14/24 m	−0.86/15 m	−3.34/28 m	−1.23/6 m	−0.8/7 m	−0.5/5 m
Muscular hypotonia truncus	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Spasticity	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Hip luxation	Bilateral	Bilateral	Hip dysplasia	No	Bilateral	No	No	Yes
Onset epilepsy	15 m	19 m	6 m	14 m	6 m	9 m	9 m	10 m
Respiratory complications	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
CT of cerebrum (age)	Mild to moderate cerebral atrophy (8 m)	Moderate to severe cerebral atrophy (19 m)	Mild cerebral atrophy (4 m) Severe atrophy, most pronounced frontal (20 m)	Mild to moderate cerebral atrophy (4 m)	Mild to moderate global cerebral atrophy (5 m)	Moderate to severe global cerebral atrophy (10 m)	No	No
MR of cerebrum	No	No	No	8 m (Fig. 2)	20 m (Fig. 2)	no	9 m (Fig. 2)	6 m + 21 m (Fig. 2)
CNS obduction	Yes (Suppl. S1)	No	No	No	No	Yes (Fig. 3)	Yes (Fig. 3)	No
Muscle histology	Yes (Suppl. S1)	Yes (Suppl. S1)	No	No	No	Yes (see results)	Yes (see results)	No

m months, y years, N.D. not determined, Resp. respiratory complications, i.sz. intractable seizures, DD developmental delay/stagnation, M muscular hypotonia, RM reduced motor activity, RA reduced attentiveness and contact, SZ seizures, Sp spacticity, Suppl see supplementary material