Disruption of Intracellular Calcium Homeostasis Leads to ERLIN2-Linked Hereditary Spastic Paraplegia in Patient-Derived Stem Cell Models

Table 2

The clinical features of the families containing heterozygosis missense variants in ERLIN2 that cause HSP.

Family	I	II	III	IV	V
Age at onset (y)	15-38	9-46	32	20-25	25-45
Variant	c.452 C>T, p.Ala151Val	c.386G>C, p.Ser129Thr	c.187C>A, p.Gln63Lys	c.206A>T, p.D69V	c.502G>A, p.V168M
Sensation	Yes	ND	No	No	No
Muscular tension	LL	LL	NA	LL	LL
Myodynamia	LL 2-4	LL 1-4	LL	LL 1-4	LL
Abnormal gait	Yes	Yes	Yes	Yes	Yes
Fasciculation	Yes	Yes	No	Yes	Yes
Spasticity	LL	LL	LL	LL	LL
Pathological condition	Yes	Yes	No	Yes	Yes
Tendon reflex	LL	LL	NA	LL	LL
Ataxia	Yes	Yes	Yes	Yes	Yes
Lalopathy	No	No	No	Yes	No
Visual impairment	No	No	No	No	No
Intellectual disability	No	No	No	No	No
Skeletal deformity	Yes	No	No	No	No

LL: lower limbs; NA: not abnormal; ND: no data.