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