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