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