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