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