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