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