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