| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
56
|
n.a.
|
-Pure or uncomplicated
Abnormality of the skeletal system Impaired vibratory sensation Spasticity, lower limb Babinski sign Lower limb muscle weakness Walking aids Abnormality of the bladder Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
30
|
n.a.
|
Spasticity, lower limb
Lower limb muscle weakness -Pure or uncomplicated Babinski sign Abnormality of the skeletal system Walking aids Show more (+3) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
40
|
47
|
n.a.
|
-Pure or uncomplicated
Lower limb muscle weakness Spasticity, lower limb Babinski sign Show more (+1) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
54
|
n.a.
|
Babinski sign
Lower limb muscle weakness -Pure or uncomplicated |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
2
|
14
|
n.a.
|
Spasticity, lower limb
Lower limb muscle weakness Babinski sign -Pure or uncomplicated Show more (+1) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
13
|
57
|
n.a.
|
Hyperreflexia in upper limbs
-Pure or uncomplicated Abnormality of the bladder Lower limb muscle weakness Spasticity, lower limb Babinski sign Abnormality of the skeletal system Impaired vibratory sensation Show more (+5) |
n.a.
|