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