| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
HUN
|
n.a.
|
47
|
n.a.
|
Spasticity, lower limb
Mri spine abnormalities Abnormality of the bladder Hyperreflexia in upper limbs Babinski sign Spastic gait Show more (+3) |
n.a.
|
|
Yes
|
♂
|
C
|
HUN
|
n.a.
|
8
|
n.a.
|
Global developmental delay
Spasticity, lower limb Spastic gait Tip-toe gait Lower limb muscle weakness Babinski sign Show more (+3) |
n.a.
|