Willkomm, 2016: Overview of all reported HSP-ATL1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♂
B
n.a.
2
7
n.a.
Cognitive impairment
Babinski sign
Spasticity, lower limb
Tip-toe gait
Spastic gait
Show more (+2)
n.a.
p.Arg217*: hom
Yes
♂
B
n.a.
8
15
n.a.
Cognitive impairment
Babinski sign
Upper limb amyotrophy
Tip-toe gait
Hyperreflexia in upper limbs
Impaired vibratory sensation
Ataxia, limb
Peripheral neuropathy on nerve conduction studies
Abnormality of the bladder
Walking aids
Muscle weakness, upper limb
Spasticity, lower limb
Spastic gait
Lower limb muscle weakness
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n.a.
p.Arg217*: hom
No
♂
B
n.a.
1
3
n.a.
Tip-toe gait
Spastic gait
Spasticity, lower limb
Babinski sign
Show more (+1)
n.a.
p.Arg217*: hom