| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
17
|
No
|
Spasticity, upper limb
Spasticity, lower limb Muscle weakness, upper limb Dysphagia Hyperreflexia in upper limbs Cognitive impairment Abnormality of the bladder Peripheral neuropathy on nerve conduction studies -Lower limb amyotrophy Inability to walk Pes cavus Lower limb muscle weakness Central motor conduction time abnormality Nerve conduction studies other abnormalities Babinski sign Wheelchair Show more (+13) |
n.a.
|
|
Yes
|
♂
|
A
|
JPN
|
0
|
12
|
n.a.
|
Spasticity, upper limb
Nerve conduction studies other abnormalities Lower limb muscle weakness Inability to walk Upper limb amyotrophy -Lower limb amyotrophy Hyperreflexia in upper limbs Walking aids Dysarthria Dysphagia Muscle weakness, upper limb Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Wheelchair Show more (+11) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
7
|
n.a.
|
Mri brain other abnormalities
Nerve conduction studies other abnormalities Spasticity, upper limb -Lower limb amyotrophy Dysarthria Upper limb amyotrophy Inability to walk Spasticity, lower limb Wheelchair Muscle weakness, upper limb Hyperreflexia in upper limbs Lower limb muscle weakness Peripheral neuropathy on nerve conduction studies Dysphagia Show more (+11) |
n.a.
|