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