Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
GRC
|
2
|
3
|
n.a.
|
Spastic gait
-Pure or uncomplicated Hyperreflexia in upper limbs |
n.a.
|
|
Yes
|
♂
|
C
|
GRC
|
3
|
14
|
n.a.
|
Abnormality of the bladder
-Pure or uncomplicated Hyperreflexia in upper limbs Spastic gait Pes cavus Lower limb muscle weakness Show more (+3) |
n.a.
|
|
Yes
|
♂
|
C
|
GRC
|
1
|
9
|
n.a.
|
-Pure or uncomplicated
Spastic gait Abnormality of the bladder Lower limb muscle weakness Show more (+1) |
n.a.
|
|
Yes
|
♂
|
C
|
GRC
|
2
|
11
|
n.a.
|
-Pure or uncomplicated
Spastic gait Spasticity, upper limb Hyperreflexia in upper limbs Show more (+1) |
n.a.
|