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