| 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 Babinski sign Hyperreflexia in upper limbs Spastic gait Abnormality of the bladder Show more (+3) |
n.a.
|
|
Yes
|
♂
|
C
|
HUN
|
n.a.
|
8
|
n.a.
|
Spasticity, lower limb
Lower limb muscle weakness Spastic gait Babinski sign Global developmental delay Tip-toe gait Show more (+3) |
n.a.
|