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