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