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