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