| 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.
|
Cognitive impairment
Babinski sign Upper limb amyotrophy Tip-toe gait Hyperreflexia in upper limbs Impaired vibratory sensation Ataxia, limb Peripheral neuropathy on nerve conduction studies Abnormality of the bladder Walking aids Muscle weakness, upper limb Spasticity, lower limb Spastic gait Lower limb muscle weakness Show more (+11) |
n.a.
|
|
No
|
♂
|
B
|
n.a.
|
1
|
3
|
n.a.
|
n.a.
|