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