| Pedigree number |
Gender |
Age at examination (years) |
Onset of symptoms
(years) |
SPRS |
SARA |
INAS |
Hyperreflexia UL/LL |
Babinski sign |
Clonus |
Decreased vibration sense |
Bladder disturbances |
Degree of disability |
MMSE |
Other signs |
PED1/II-1
proband |
M |
56 |
40 |
24/52 |
3 |
18 |
+/+ |
+ |
+ |
+ |
+ |
4 |
27/30 |
Fasciculations mm. UL/LL¹ |
| PED1/III-1 |
M |
31 |
- |
0/52 |
0 |
0 |
-/+ |
- |
- |
- |
- |
0 |
28/30 |
|
| PED1/III-2 |
F |
26 |
- |
0/52 |
0 |
0 |
+/+ |
- |
- |
- |
- |
0 |
29/30 |
|
PED2/II-1
proband |
F |
45 |
41 |
18/52 |
4 |
11 |
+/+ |
+ |
+ |
- |
+ |
2 |
29/30 |
Gothic palate, crowded teeth, lack of upper lateral incisor buds |
| PED2/I-2 |
F |
65 |
- |
2/52 |
0 |
0 |
-/+
patellar reflexes |
- |
- |
- |
- |
0 |
28/30 |
Gothic palate, crowded teeth, lack of upper lateral incisor buds |
| PED2/III-1 |
F |
23 |
- |
1/52 |
0 |
0 |
+/+ |
- |
- |
- |
- |
0 |
30/30 |
Gothic palate, crowded teeth, lack of upper lateral incisor buds |
Legends: SPRS – Spastic Paraplegia Rating Scale, UL – upper limbs, LL – lower limbs, MMSE – mini mental scale examination; mm. – muscles, + present, - absent.
Degrees of disability: 0 – asymptomatic; 1 – no functional impairment, but signs at examination; 2 – mild gait stiffness, walking unlimited, limited running still possible; 3 –
moderate gait stiffness, limited walking without aid, running impossible; 4 – moderate or severe gait stiffness, walking only with aid; 5 – wheelchair bound 1 – deltoid muscles
and quadriceps muscles of thigh. 1 and 2 – probands, 1a, 1b, 2a, 2b – affected family |
