| 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.
|
Retinopathy
Abnormality of the bladder Peripheral neuropathy on nerve conduction studies Muscle weakness, upper limb Spastic gait Spasticity, lower limb Babinski sign Upper limb amyotrophy Pes cavus Lower limb muscle weakness Ataxia, limb Walking aids Spasticity, upper limb Impaired vibratory sensation Nerve conduction studies other abnormalities -Lower limb amyotrophy Show more (+13) |
n.a.
|