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