| 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.
|
Hyperreflexia in upper limbs
Impaired temperature sensation Impaired vibratory sensation |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
60
|
75
|
n.a.
|
Impaired vibratory sensation
Lower limb muscle weakness Abnormality of the bladder Spasticity, lower limb Spastic gait Pes cavus 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
|
Cognitive impairment
Wheelchair Inability to walk Pes cavus -Lower limb amyotrophy Upper limb amyotrophy Spastic gait Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
n.a.
|
Cognitive impairment
Impaired vibratory sensation -Pure or uncomplicated Spasticity, lower limb -Lower limb amyotrophy Impaired pain sensation Show more (+3) |
n.a.
|