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Table 2 Clinical data of HSP patients with mutations in HSP-related genes in this study

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

Patient Sex AAO DD Inheritance Gene Variants (known/novel) Variant type Phenotype Neuropathy UL/LL hyperreflexia LL weakness Ankle clonus Babinski Additional features
Case 1 F 24 3 sporadic SPG11 p.M245 fs (known)
p.F2343 fs (novel)
het
het
C +/+ + + + dysarthria, mental retardation
Case 2 M 16 5 sporadic SPG11 p.L950 fs (known)
p.V1979_L1980delinsX (novel)
het
het
C −/− + tremor
Case 3 F 38 10 sporadic CYP7B1 p.R112X (known) hom C + +/+ + + + dysarthria, visual impairment
Case 4 F 12 20 sporadic ALDH18A1 p.S242 N (novel) hom C + −/+ + NA + depression and anxiety
Case 5 M 22 4 sporadic GBA2 p.D597fs (novel) hom C + −/+ + + + Hoffmann sign,
mental retardation
Case 6 M 20 14 AR CAPN1 c.759 + 1G > A (knwon) hom P +/+ + + Hoffmann sign
Case 7 M 58 2 sporadic AP5Z1 p.T55 M (novel)
p.S308 T (novel)
het
het
C + −/+ + Hoffmann sign
Case 8 M 24 4 sporadic ATP13A2 p.Q486X (novel) hom C + +/+ + nystagmus,
  1. AAO Age at onset, DD Disease duration, F Female, M Male, AR Autosomal recessive, het Heterozygosis, hom Homozygosis, P Pure, C Complex, UL Upper limbs, LL Lower limbs, + Present, − Absent; NA Not available