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