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