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.
|
Impaired vibratory sensation
Hyperreflexia in upper limbs Impaired temperature sensation |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
60
|
75
|
n.a.
|
Pes cavus
Lower limb muscle weakness Spastic gait Abnormality of the bladder Impaired vibratory sensation Spasticity, lower limb Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
40
|
70
|
No
|
Upper limb amyotrophy
-Lower limb amyotrophy Pes cavus |
n.a.
|
|
No
|
♀
|
n.a.
|
GBR
|
40
|
86
|
No
|
Pes cavus
-Lower limb amyotrophy Cognitive impairment Upper limb amyotrophy Wheelchair Spastic gait Inability to walk Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
n.a.
|
-Pure or uncomplicated
Cognitive impairment Spasticity, lower limb -Lower limb amyotrophy Impaired vibratory sensation Impaired pain sensation Show more (+3) |
n.a.
|