| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
ITA
|
51
|
86
|
n.a.
|
Abnormality of the bladder
Lower limb muscle weakness Babinski sign Spastic gait Dystonia (any or unspecified) Spasticity, lower limb Inability to walk -Pure or uncomplicated Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
39
|
54
|
n.a.
|
Hyperreflexia in upper limbs
Babinski sign Lower limb muscle weakness Spasticity, lower limb -Pure or uncomplicated Abnormality of the bladder Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
47
|
53
|
n.a.
|
Abnormality of the bladder
Spasticity, lower limb Nerve conduction studies other abnormalities -Pure or uncomplicated Babinski sign Show more (+2) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
50
|
60
|
n.a.
|
Lower limb muscle weakness
Abnormality of the bladder -Pure or uncomplicated Spasticity, lower limb Show more (+1) |
n.a.
|