Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
GBR
|
n.a.
|
11
|
n.a.
|
Hyperreflexia in upper limbs
Impaired temperature sensation Impaired vibratory sensation |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
60
|
75
|
n.a.
|
Spastic gait
Spasticity, lower limb Impaired vibratory sensation Lower limb muscle weakness Abnormality of the bladder Pes cavus Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
40
|
70
|
No
|
-Lower limb amyotrophy
Pes cavus Upper limb amyotrophy |
n.a.
|
|
No
|
♀
|
n.a.
|
GBR
|
40
|
86
|
No
|
Wheelchair
Pes cavus Inability to walk Spastic gait Upper limb amyotrophy -Lower limb amyotrophy Cognitive impairment Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
n.a.
|
-Lower limb amyotrophy
Spasticity, lower limb -Pure or uncomplicated Impaired pain sensation Impaired vibratory sensation Cognitive impairment Show more (+3) |
n.a.
|