From: Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia
Patient | A | E | F | G | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Age at examination (years) | 56 | 37 | 57 | 51 | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a |
Age at onset of symptoms | n/a | 33 | 37 | 39 | ›30 | ~ 42 | ›30 | ~ 45 | ›40 | ›43 | ›30 | ~ 42 |
Age at death | n/a | n/a | n/a | n/a | ›50 | 72 | ›65 | 66 | 79 | 72 | ›65 | 47 |
Motor symptoms | non | Mild gait disorder, slow deterioration | Very severe gait disorder, slow deterioration | Severe gait disorder, slow deterioration | Severe gat disorder, slow deterioration | Severe gait disorder, slow deterioration | Severe gait disorders | Severe gait disorders | Mild gait disorder, slow deterioration | Severe gait disorder, slow deterioration | Severe gait disorders | Mild gate disorders, frequent falls |
Neurological examination | Bilateral hyperreflexia, Babinski sign | Spastic para-paresis | Spastic para-paresis | Spastic para-paresis | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a |
Spastic Paraplegia Rating Scale | 0 | 14 | 29 | 23 | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a |
Disability stage | No mobility problems | Mild gait stiffness | Moderate gait stiffness Uses crane age 55 | Moderate gait stiffness Occasionally needs support when walking | n/a | Moderate gait stiffness Used bilateral support above age 60 when walking | n/a | In wheel-chair 6 years before death | Moderate gait stiffness Needed bilateral support when walking 10 years before death | Used crane age 67 | n/a | n/a |
Medical conditions complicating disability | Polio disease in childhood | Stroke 3 years before death | ›43 after her mother death she developed depression, stayed at home, was not active. She broke leg at age 60 and since then she lead sedentary lifestyle and then was bed-ridden for few years | Abuse of alcohol/liver cancer |