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