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