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