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