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