| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
GBR
|
72
|
77
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
C
|
GBR
|
11
|
38
|
n.a.
|
Muscle weakness, upper limb
Abnormality of the bladder Impaired vibratory sensation Retinopathy Lower limb muscle weakness Walking aids -Lower limb amyotrophy Spasticity, upper limb Nerve conduction studies other abnormalities Spasticity, lower limb Spastic gait Babinski sign Upper limb amyotrophy Pes cavus Ataxia, limb Peripheral neuropathy on nerve conduction studies Show more (+13) |
n.a.
|