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