Table 3 Phenotypes of HSP patients with pathogenic SPAST mutations.
Patient | Gender | Nationality | Clinical form of HSP | Age of onset (years) | Additional clinical description | Pedigree | Variant |
|---|---|---|---|---|---|---|---|
2109 | F | Estonian | AD-cHSP | 30 | Bladder dysfunction, mild dementia, mild depression | I | c.1174-1G>C |
2930 | F | Estonian | AD-pHSP | 35 | Bladder dysfunction, mild depression | I | |
2931 | F | Estonian | AD-pHSP | 10 | - | I | |
2480 | F | Estonian | AD-pHSP | 28 | Bladder dysfunction, pes cavus, moderate depression, uses cane | II | c.1378C>A |
2482 | M | Estonian | AD-pHSP | 3 | Mild depression | II | |
2388 | F | Estonian | AD-pHSP | 40 | Bladder dysfunction, mild depression, uses cane | III | c.1276 C>T |
2747 | M | Estonian | AD-cHSP | 21 | Mild cognitive impairment, moderate depression | III | |
2754 | F | Estonian | AD-pHSP | 12 | Bladder dysfunction, mild depression, uses bilateral crutches | III | |
2389 | F | Estonian | AD-cHSP | 46 | Bladder dysfunction, mild cognitive impairment, mild depression | IV | c.1841_1842insA |
2753 | M | Russian | pHSP | 36 | - | NA | c.1352_1356del GAGAA |
2752 | M | Armenian | cHSP | 38 | Bladder dysfunction, mild cognitive impairment, mild depression, uses wheelchair | NA | c.1185delA |
2478 | M | Estonian | pHSP | 35 | Sporadic case, bladder dysfunction, uses cane | NA | c.1518_1519insTC |