Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
USA
|
40
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
|
Yes
|
♂
|
n.a.
|
USA
|
40
|
47
|
n.a.
|
Hyperreflexia in upper limbs
-Pure or uncomplicated Babinski sign Abnormality of the bladder Lower limb muscle weakness Spasticity, lower limb Show more (+3) |
n.a.
|