| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
B
|
n.a.
|
2
|
7
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
B
|
n.a.
|
8
|
15
|
n.a.
|
Abnormality of the bladder
Lower limb muscle weakness Impaired vibratory sensation Muscle weakness, upper limb Walking aids Ataxia, limb Babinski sign Upper limb amyotrophy Spasticity, lower limb Cognitive impairment Tip-toe gait Hyperreflexia in upper limbs Spastic gait Peripheral neuropathy on nerve conduction studies Show more (+11) |
n.a.
|
|
No
|
♂
|
B
|
n.a.
|
1
|
3
|
n.a.
|
n.a.
|