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