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