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