Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Table 3 Clinical features of patients with mutations in ALDH18A1 gene

Case No./Origin	Case 3/China^a	FSP856/Spain [32]	SR45/Portugal [32]	HSP190/Japan [34]	HSP48/Japan [34]	NA/NA [33]
variant	p.S242 N/p.S242 N^a	p.D715H/p.D715H	p.R128H/p.L637P	p.R441^a/p.R665Q	p.R128H/p. L637P	p.R84Q/p.E581K
patient	1	2	4	2	2	1
AAO (mean)	12	7	< 1	< 6	32	< 1
DD (mean)	20	33	45	NA	NA	19
LL Spasticity	+	+	+	+	+	+
Pyramidal sign	+	+	+	+	+	+
Intellectual disability	–	+	+	+	+	+
Ataxia	–	–	–	+	+	NA
Cutis laxa	–	–	–	–	–	–

AAO Age at onset, DD Disease duration, LL Lower limbs, + Present, − Absent, NA Not available; ^a: Present study; [32,33,34]: references

ISSN: 2047-9158