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
Dystonia (any or unspecified) Inability to walk Babinski sign Spastic gait Lower limb muscle weakness Spasticity, lower limb -Pure or uncomplicated Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
39
|
54
|
n.a.
|
Hyperreflexia in upper limbs
-Pure or uncomplicated Spasticity, lower limb Lower limb muscle weakness Babinski sign Abnormality of the bladder Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
47
|
53
|
n.a.
|
-Pure or uncomplicated
Abnormality of the bladder Babinski sign Spasticity, lower limb Nerve conduction studies other abnormalities Show more (+2) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
50
|
60
|
n.a.
|
-Pure or uncomplicated
Abnormality of the bladder Spasticity, lower limb Lower limb muscle weakness Show more (+1) |
n.a.
|