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