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Table 3 Clinical features of patients with mutations in ALDH18A1 gene

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

Case No./Origin Case 3/Chinaa FSP856/Spain [32] SR45/Portugal [32] HSP190/Japan [34] HSP48/Japan [34] NA/NA [33]
variant p.S242 N/p.S242 Na p.D715H/p.D715H p.R128H/p.L637P p.R441a/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
  1. AAO Age at onset, DD Disease duration, LL Lower limbs, + Present, − Absent, NA Not available; a: Present study; [32,33,34]: references