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