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