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