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