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.
Babinski sign
Spastic gait
Spasticity, lower limb
Tip-toe gait
Cognitive impairment
Show more (+2)
n.a.
p.Arg217*: hom
Yes
B
n.a.
8
15
n.a.
Spasticity, lower limb
Walking aids
Abnormality of the bladder
Spastic gait
Hyperreflexia in upper limbs
Impaired vibratory sensation
Babinski sign
Tip-toe gait
Cognitive impairment
Lower limb muscle weakness
Peripheral neuropathy on nerve conduction studies
Ataxia, limb
Muscle weakness, upper limb
Upper limb amyotrophy
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n.a.
p.Arg217*: hom
No
B
n.a.
1
3
n.a.
Tip-toe gait
Babinski sign
Spasticity, lower limb
Spastic gait
Show more (+1)
n.a.
p.Arg217*: hom