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