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