| 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, lower limb
Nerve conduction studies other abnormalities Abnormality of the bladder -Lower limb amyotrophy Cognitive impairment Wheelchair Pes cavus Inability to walk Muscle weakness, upper limb Spasticity, upper limb Hyperreflexia in upper limbs Dysphagia Lower limb muscle weakness Babinski sign Central motor conduction time abnormality Peripheral neuropathy on nerve conduction studies Show more (+13) |
n.a.
|
|
Yes
|
♂
|
A
|
JPN
|
0
|
12
|
n.a.
|
Spasticity, lower limb
Walking aids Spasticity, upper limb Dysarthria Inability to walk Upper limb amyotrophy Dysphagia Lower limb muscle weakness -Lower limb amyotrophy Muscle weakness, upper limb Nerve conduction studies other abnormalities Wheelchair Hyperreflexia in upper limbs Peripheral neuropathy on nerve conduction studies Show more (+11) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
7
|
n.a.
|
Upper limb amyotrophy
Wheelchair Inability to walk Nerve conduction studies other abnormalities -Lower limb amyotrophy Spasticity, upper limb Dysphagia Hyperreflexia in upper limbs Lower limb muscle weakness Peripheral neuropathy on nerve conduction studies Dysarthria Mri brain other abnormalities Spasticity, lower limb Muscle weakness, upper limb Show more (+11) |
n.a.
|