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