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