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