Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report

Table 1 Clinical features of patients with a c.1053dupA mutation of the SPG4 gene

Patient	Sex	Age at onset, yr	Duration of the disease, yr	Hyperreflexia	Spasticity	Decreased vibration sense	Sensory impairment	Stagesa	SPRS
IV: 2	Male	50	24	+	+	-	N	4	28
IV: 4	Male	40	31	+	+	-	N	4	30
V: 3	Female	46	2	-	-	-	N	1	3
V: 4	Male	37	7	+	+	-	N	3	20
VI: 1	Male	10	10	+	+	-	N	2	16
VI: 3	Male	-	-	-	-	-	N	1	0

^aThe following stages were defined: (1) Normal or very slight stiffness in the legs; (2) Moderate gait stiffness; (3) Unable to run while able to walk alone; (4) Able to walk on crutches or with help; and (5) Wheelchair-bound. -: Absent; +: Present; N: Normal; SPRS: Spastic paraplegia rating scale.