Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
25
|
46
|
n.a.
|
Pes cavus
Spasticity, lower limb Spastic gait Impaired vibratory sensation Central motor conduction time abnormality Babinski sign Show more (+3) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
23
|
41
|
n.a.
|
Central motor conduction time abnormality
Abnormality of the bladder Pes cavus Spasticity, lower limb Impaired vibratory sensation Spastic gait Babinski sign Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
49
|
75
|
n.a.
|
Wheelchair
Inability to walk Nerve conduction studies other abnormalities Mri brain other abnormalities Peripheral neuropathy on nerve conduction studies Spastic gait Abnormality of the bladder Spasticity, lower limb Central motor conduction time abnormality Babinski sign Cognitive impairment Show more (+8) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
32
|
60
|
n.a.
|
Spastic gait
Babinski sign Central motor conduction time abnormality Pes cavus Spasticity, lower limb Impaired vibratory sensation Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
41
|
66
|
n.a.
|
Spastic gait
Walking aids Mri brain other abnormalities Babinski sign Peripheral neuropathy on nerve conduction studies Cognitive impairment Spasticity, lower limb Abnormality of the bladder Nerve conduction studies other abnormalities Central motor conduction time abnormality Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
26
|
49
|
n.a.
|
Pes cavus
Impaired vibratory sensation Spastic gait Abnormality of the bladder Central motor conduction time abnormality Babinski sign Spasticity, lower limb Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
ITA
|
26
|
46
|
n.a.
|
Babinski sign
Spastic gait Impaired vibratory sensation Pes cavus Central motor conduction time abnormality Spasticity, lower limb Show more (+3) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
52
|
59
|
n.a.
|
Walking aids
Central motor conduction time abnormality Peripheral neuropathy on nerve conduction studies Mri brain other abnormalities Spasticity, lower limb Babinski sign Nerve conduction studies other abnormalities Spastic gait Abnormality of the bladder Cognitive impairment Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
48
|
57
|
n.a.
|
Abnormality of the bladder
Walking aids Cognitive impairment Spasticity, lower limb Central motor conduction time abnormality Nerve conduction studies other abnormalities Spastic gait Mri brain other abnormalities Peripheral neuropathy on nerve conduction studies Babinski sign Show more (+7) |
n.a.
|
|
No
|
♂
|
C
|
ITA
|
48
|
72
|
n.a.
|
Spasticity, lower limb
Walking aids Cognitive impairment Peripheral neuropathy on nerve conduction studies Spastic gait Babinski sign Nerve conduction studies other abnormalities Central motor conduction time abnormality Mri brain other abnormalities Abnormality of the bladder Show more (+7) |
n.a.
|