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