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