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