Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
16
|
47
|
No
|
n.a.
|
||
No
|
n.a.
|
n.a.
|
n.a.
|
30
|
71
|
No
|
Spastic gait
Spasticity, lower limb Lower limb muscle weakness Abnormality of the bladder Babinski sign Show more (+2) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
GBR
|
27
|
56
|
No
|
n.a.
|
||
Yes
|
n.a.
|
n.a.
|
GBR
|
45
|
60
|
No
|
Lower limb muscle weakness
Abnormality of the bladder Babinski sign Walking aids Spasticity, lower limb Hyperreflexia in upper limbs Spastic gait Show more (+4) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
GBR
|
25
|
43
|
No
|
Spasticity, lower limb
Walking aids Spastic gait Babinski sign Impaired vibratory sensation Show more (+2) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
GBR
|
35
|
72
|
No
|
Lower limb muscle weakness
Spastic gait Spasticity, lower limb Impaired vibratory sensation Babinski sign Wheelchair Inability to walk Hyperreflexia in upper limbs Show more (+5) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
n.a.
|
16
|
42
|
No
|
Spastic gait
Lower limb muscle weakness Spasticity, lower limb |
n.a.
|
|
No
|
n.a.
|
n.a.
|
n.a.
|
20
|
37
|
No
|
Spasticity, lower limb
Lower limb muscle weakness Spastic gait |
n.a.
|
|
No
|
n.a.
|
n.a.
|
GBR
|
40
|
63
|
No
|
Spasticity, lower limb
Hyperreflexia in upper limbs Spastic gait Lower limb muscle weakness Nystagmus Abnormality of the bladder Ataxia, limb Babinski sign Wheelchair Impaired vibratory sensation Show more (+7) |
n.a.
|
|
No
|
n.a.
|
n.a.
|
n.a.
|
35
|
40
|
No
|
Spasticity, lower limb
Spastic gait |
n.a.
|