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