Yonekawa, 2014: Overview of all reported HSP-ATL1 patients
| 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
Cognitive impairment Lower limb muscle weakness Hyperreflexia in upper limbs Spasticity, upper limb Pes cavus Spasticity, lower limb Inability to walk Central motor conduction time abnormality Nerve conduction studies other abnormalities Abnormality of the bladder Wheelchair -Lower limb amyotrophy Muscle weakness, upper limb Babinski sign Peripheral neuropathy on nerve conduction studies Show more (+13) |
n.a.
|
|
Yes
|
♂
|
A
|
JPN
|
0
|
12
|
n.a.
|
Inability to walk
Lower limb muscle weakness Spasticity, upper limb Walking aids Dysphagia Muscle weakness, upper limb -Lower limb amyotrophy Hyperreflexia in upper limbs Nerve conduction studies other abnormalities Dysarthria Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Wheelchair Upper limb amyotrophy Show more (+11) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
7
|
n.a.
|
Nerve conduction studies other abnormalities
Inability to walk -Lower limb amyotrophy Hyperreflexia in upper limbs Wheelchair Peripheral neuropathy on nerve conduction studies Muscle weakness, upper limb Spasticity, lower limb Upper limb amyotrophy Lower limb muscle weakness Dysarthria Mri brain other abnormalities Spasticity, upper limb Dysphagia Show more (+11) |
n.a.
|