| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
n.a.
|
C
|
ITA
|
39
|
55
|
n.a.
|
Pes cavus
Spastic gait Cognitive impairment Mri brain other abnormalities Spasticity, lower limb Lower limb muscle weakness Show more (+3) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
45
|
75
|
n.a.
|
Spasticity, lower limb
Lower limb muscle weakness Pes cavus Mri brain other abnormalities Cognitive impairment Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
18
|
22
|
n.a.
|
Pes cavus
Inability to walk Wheelchair Spastic gait Cognitive impairment Spasticity, lower limb Mri brain other abnormalities Show more (+4) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
30
|
38
|
n.a.
|
Mri brain other abnormalities
Spasticity, lower limb Spastic gait Spasticity, upper limb Cognitive impairment Walking aids Lower limb muscle weakness Hyperreflexia in upper limbs Pes cavus Show more (+6) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
38
|
39
|
n.a.
|
Spasticity, lower limb
Pes cavus Mri brain other abnormalities Spastic gait Lower limb muscle weakness Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
42
|
58
|
n.a.
|
Pes cavus
Mri brain other abnormalities Spasticity, lower limb |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
33
|
36
|
n.a.
|
Pes cavus
Lower limb muscle weakness Mri brain other abnormalities Spastic gait Seizures Spasticity, lower limb Show more (+3) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
44
|
76
|
n.a.
|
Spasticity, lower limb
Spastic gait Pes cavus Cognitive impairment Mri brain other abnormalities Show more (+2) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
21
|
23
|
n.a.
|
Lower limb muscle weakness
Spastic gait Spasticity, lower limb Abnormality of the bladder Mri brain other abnormalities Wheelchair Inability to walk Pes cavus Show more (+5) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
20
|
23
|
n.a.
|
Wheelchair
Spasticity, lower limb Mri brain other abnormalities Spastic gait Inability to walk Deafness early onset less 40 years Pes cavus Lower limb muscle weakness Show more (+5) |
n.a.
|