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