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