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