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