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