| 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
Spastic gait Wheelchair Inability to walk Impaired proprioception Impaired vibratory sensation Pes cavus Lower limb muscle weakness Babinski sign Abnormality of the bladder Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
25
|
45
|
n.a.
|
Spastic gait
Impaired vibratory sensation Abnormality of the bladder Babinski sign -Pure or uncomplicated Hyporeflexia of upper limbs Pes cavus Impaired proprioception Lower limb muscle weakness Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
25
|
72
|
n.a.
|
Lower limb muscle weakness
Impaired vibratory sensation -Pure or uncomplicated Abnormality of the bladder Spastic gait Pes cavus Inability to walk Wheelchair Impaired proprioception Babinski sign Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
30
|
67
|
n.a.
|
-Pure or uncomplicated
Babinski sign Pes cavus Spastic gait Impaired vibratory sensation Lower limb muscle weakness Impaired proprioception Hyporeflexia of upper limbs Abnormality of the bladder Show more (+6) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
30
|
55
|
n.a.
|
Lower limb muscle weakness
Spastic gait Abnormality of the bladder -Pure or uncomplicated Babinski sign Show more (+2) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
25
|
33
|
n.a.
|
Impaired vibratory sensation
Impaired proprioception Pes cavus Lower limb muscle weakness Hyporeflexia of upper limbs -Pure or uncomplicated Babinski sign Spastic gait Show more (+5) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
30
|
72
|
n.a.
|
Inability to walk
Impaired vibratory sensation Babinski sign Wheelchair Impaired proprioception Abnormality of the bladder -Pure or uncomplicated Lower limb muscle weakness Pes cavus Hyporeflexia of upper limbs Spastic gait Show more (+8) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
30
|
70
|
n.a.
|
Wheelchair
Impaired vibratory sensation Spastic gait Pes cavus Abnormality of the bladder Inability to walk Babinski sign -Pure or uncomplicated Impaired proprioception Lower limb muscle weakness Show more (+7) |
n.a.
|