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