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