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