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