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