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