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.
|
Abnormality of the skeletal system
Pes cavus Lower limb muscle weakness Spasticity, lower limb Spastic gait Hyperreflexia in upper limbs Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
BGR
|
2
|
10
|
n.a.
|
-Pure or uncomplicated
Spasticity, lower limb Abnormality of the bladder Spastic gait Show more (+1) |
n.a.
|
|
No
|
♂
|
n.a.
|
BGR
|
24
|
57
|
n.a.
|
Spasticity, lower limb
Spastic gait -Pure or uncomplicated |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BGR
|
17
|
18
|
n.a.
|
-Pure or uncomplicated
Spastic gait Spasticity, lower limb |
n.a.
|
|
No
|
♂
|
n.a.
|
BGR
|
14
|
31
|
n.a.
|
Abnormality of the skeletal system
Cognitive impairment Pes cavus Spastic gait Spasticity, lower limb Lower limb muscle weakness Hyperreflexia in upper limbs Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BGR
|
35
|
40
|
n.a.
|
Spastic gait
-Pure or uncomplicated Pes cavus Abnormality of the bladder Spasticity, lower limb Hyperreflexia in upper limbs Show more (+3) |
n.a.
|
|
No
|
♀
|
n.a.
|
BGR
|
2
|
12
|
n.a.
|
Lower limb muscle weakness
Spasticity, lower limb -Pure or uncomplicated Pes cavus Spastic gait Show more (+2) |
n.a.
|
|
No
|
♀
|
n.a.
|
BGR
|
55
|
57
|
n.a.
|
Spasticity, lower limb
-Pure or uncomplicated Spastic gait |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BGR
|
7
|
42
|
n.a.
|
Lower limb muscle weakness
Spastic gait Hyperreflexia in upper limbs -Pure or uncomplicated Abnormality of the bladder Spasticity, lower limb Show more (+3) |
n.a.
|