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