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