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