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