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