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