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