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