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