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
Spasticity, lower limb -Pure or uncomplicated Inability to walk Lower limb muscle weakness Dystonia (any or unspecified) Spastic gait Babinski sign Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
39
|
54
|
n.a.
|
Hyperreflexia in upper limbs
Spasticity, lower limb Abnormality of the bladder Lower limb muscle weakness -Pure or uncomplicated Babinski sign Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
47
|
53
|
n.a.
|
Nerve conduction studies other abnormalities
Babinski sign Spasticity, lower limb Abnormality of the bladder -Pure or uncomplicated 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.
|