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