| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
BGR
|
40
|
50
|
n.a.
|
n.a.
|
||
No
|
♀
|
n.a.
|
BGR
|
6
|
13
|
n.a.
|
Hyperreflexia in upper limbs
Lower limb muscle weakness Spastic gait Abnormality of the skeletal system Spasticity, lower limb Pes cavus Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
BGR
|
2
|
10
|
n.a.
|
Abnormality of the bladder
Spastic gait Spasticity, lower limb -Pure or uncomplicated Show more (+1) |
n.a.
|
|
No
|
♂
|
n.a.
|
BGR
|
24
|
57
|
n.a.
|
Spastic gait
-Pure or uncomplicated Spasticity, lower limb |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BGR
|
17
|
18
|
n.a.
|
Spastic gait
Spasticity, lower limb -Pure or uncomplicated |
n.a.
|
|
No
|
♂
|
n.a.
|
BGR
|
14
|
31
|
n.a.
|
Hyperreflexia in upper limbs
Cognitive impairment Pes cavus Lower limb muscle weakness Abnormality of the skeletal system Spastic gait Spasticity, lower limb Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BGR
|
35
|
40
|
n.a.
|
Hyperreflexia in upper limbs
Pes cavus -Pure or uncomplicated Spastic gait Spasticity, lower limb Abnormality of the bladder Show more (+3) |
n.a.
|
|
No
|
♀
|
n.a.
|
BGR
|
2
|
12
|
n.a.
|
-Pure or uncomplicated
Spastic gait Pes cavus Lower limb muscle weakness Spasticity, lower limb Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
BGR
|
55
|
57
|
n.a.
|
-Pure or uncomplicated
Spasticity, lower limb Spastic gait |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BGR
|
7
|
42
|
n.a.
|
Abnormality of the bladder
Spasticity, lower limb Spastic gait Hyperreflexia in upper limbs -Pure or uncomplicated Lower limb muscle weakness Show more (+3) |
n.a.
|