| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
ITA
|
20
|
43
|
n.a.
|
Abnormality of the bladder
Pes cavus Impaired vibratory sensation Impaired proprioception Babinski sign Inability to walk Spastic gait Wheelchair Lower limb muscle weakness -Pure or uncomplicated Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
25
|
45
|
n.a.
|
Babinski sign
Pes cavus Impaired vibratory sensation Spastic gait Abnormality of the bladder -Pure or uncomplicated Impaired proprioception Hyporeflexia of upper limbs Lower limb muscle weakness Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
25
|
72
|
n.a.
|
Spastic gait
Wheelchair -Pure or uncomplicated Abnormality of the bladder Babinski sign Pes cavus Impaired vibratory sensation Impaired proprioception Inability to walk Lower limb muscle weakness Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
30
|
67
|
n.a.
|
Abnormality of the bladder
Impaired proprioception Spastic gait Impaired vibratory sensation Babinski sign -Pure or uncomplicated Hyporeflexia of upper limbs Pes cavus Lower limb muscle weakness Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
30
|
55
|
n.a.
|
Spastic gait
Babinski sign -Pure or uncomplicated Lower limb muscle weakness Abnormality of the bladder Show more (+2) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
25
|
33
|
n.a.
|
Lower limb muscle weakness
Impaired vibratory sensation -Pure or uncomplicated Impaired proprioception Spastic gait Babinski sign Hyporeflexia of upper limbs Pes cavus Show more (+5) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
30
|
72
|
n.a.
|
-Pure or uncomplicated
Hyporeflexia of upper limbs Wheelchair Spastic gait Inability to walk Lower limb muscle weakness Impaired vibratory sensation Pes cavus Abnormality of the bladder Babinski sign Impaired proprioception Show more (+8) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
30
|
70
|
n.a.
|
Lower limb muscle weakness
Inability to walk Spastic gait Babinski sign Impaired proprioception Abnormality of the bladder -Pure or uncomplicated Wheelchair Pes cavus Impaired vibratory sensation Show more (+7) |
n.a.
|