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