Table 1:

Clinical and molecular characteristics of 8 patients with GJA1 variants^{^a}

	Patient 1#	Patient 2#	Patient 3	Patient 4*	Patient 5*	Patient 6*	Patient 7	Patient 8
Sex/age at examination (yr)	Male/64	Female/34	Female/25	Female/49	Female/22	Female/19	Female/49	Male/56
Family history	Dominant	Dominant	None	Dominant	Dominant	Dominant	None	Dominant
ODDD dysmorphia	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Age (yr)/symptom at onset	50/Gait	28/Gait	18/Urinary	14/Urinary	14/Urinary	16/Urinary	15/Gait	50/Gait
Current disability stage	1	3	3	3	1	1	6	1
LL reduced strength	None	Prox.	Prox.	Prox.	None	None	Prox./dist.	None
LL spasticity	Yes	Yes	Yes	Yes	No	No	Yes	Yes
UL/LL reflexes	↑/↑	↑/↑	↑/↑	↑/↑	↑/↑	↑/↑	↑/↑	↑/↑
Plantar reflexes	Indifferent	Extensor	Extensor	Extensor	Extensor	Extensor	Extensor	Extensor
UL/LL vibration sense	N/↓	N/↓	N/↓	↓/↓	N/N	N/N	N/↓	N/↓
Romberg sign	No	Yes	Yes	No	No	No	Yes	No
Oculomotor signs	Hypermetric saccades	Saccadic pursuit	None	Saccadic pursuit	Hypermetric saccades	None	None	Saccadic pursuit
Dysmetria/dysarthria	Yes/No	Yes/No	No/No	Yes/No	Yes/No	No/No	No/No	No/No
Urinary symptoms	No	+	+++	+++	++	++	++	No
Cognition	Dysexec.	Normal	Normal	Normal	Normal	Normal	Normal	Normal
GJA1 variant	c.93T>G	c.93T>G	c.443G>A	c.428G>A	c.428G>A	c.428G>A	c.412G>A	c.634T>A
Amino acid change	p.I31M	p.I31M	p.R148Q	p.G143D	p.G143D	p.G143D	p.G138S	p.F212I

Note:—* and ^# indicate patients belonging to the same family; UL, upper limbs; LL, lower limbs; Prox., proximal; dist., distal; ↑, increased; ↓, decreased; Dysexec., dysexecutive syndrome; N, normal; +, mild; ++, moderate; +++, severe.
↵a Disability stage index: 1, no functional handicap but signs at examination; 3, moderate, unable to run, limited walking without aid; 6, unable to walk, requiring wheelchair.