| 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.
|
-Pure or uncomplicated
Lower limb muscle weakness Hyperreflexia in upper limbs Abnormality of the bladder Spasticity, lower limb Babinski sign Show more (+3) |
n.a.
|