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