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