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