Table 1.

A summary of clinical features of eight affected individuals in six families with CAPN1 mutations

	Family 1	Family 2	Family 3		Family 4		Family 5	Family 6
	II‐1	II‐1	II‐1	II‐2	IV‐1	IV‐2	IV‐4	II‐1
Mutation	c.182_183insC	c.1493C>T and c.1852C>T	c.759+1G>A	c.759+1G>A	c.182_183insC	c.182_183insC	c.853C>T	c.1442G>A and c.1493C>T
Gender	Male	Male	Female	Male	Male	Female	Male	Female
Age at onset, year	27	33	33	38	21	21	28	19
Disease duration, year	14	9	11	4	20	19	18	4
Disability score	3	2	2	2	3	3	2	2
Initial symptom	Weakness and stiffness of legs	Weakness and stiffness of legs	Stiffness of legs	Stiffness of legs; unsteadiness	Stiffness of legs	Stiffness of legs	Weakness and stiffness of legs	Stiffness of legs
Dysarthria	‐	‐	‐	‐	+	+	‐	‐
Cerebellar sign	Limb ataxia	‐	Truncal and gait ataxia	Truncal and gait ataxia	Limb ataxia	Limb ataxia	‐	‐
Hypermyotonia‐UL	+	+	‐	‐	+	+	‐	‐
Hypermyotonia‐LL	+	+	+	+	+	+	+	+
Hyperreflexia‐UL	+	+	+	+	+	+	+	+
Hyperreflexia‐LL	+	+	+	+	+	+	+	+
Lower limb weakness	+	+	‐	‐	‐	‐	+	‐
Extensor plantar response	+	+	+	‐	+	+	+	+
Sensory impairment	‐	‐	‐	‐	‐	‐	‐	‐
Brain MRI	Normal	Normal	NA	Mild cerebellar atrophy	Normal	Normal	Normal	Normal

Disability score: 1 = normal, 2 = walks but cannot run, 3 = walks with aids, 4 = wheelchair bound.

UL = upper limbs, LL = lower limbs; + = present; ‐ = absent; NA = not available.