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