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