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
Tip-toe gait
Cognitive impairment
Spasticity, lower limb
Show more (+2)
n.a.
p.Arg217*: hom
Yes
B
n.a.
8
15
n.a.
Tip-toe gait
Ataxia, limb
Spastic gait
Hyperreflexia in upper limbs
Walking aids
Upper limb amyotrophy
Peripheral neuropathy on nerve conduction studies
Babinski sign
Lower limb muscle weakness
Cognitive impairment
Muscle weakness, upper limb
Impaired vibratory sensation
Spasticity, lower limb
Abnormality of the bladder
Show more (+11)
n.a.
p.Arg217*: hom
No
B
n.a.
1
3
n.a.
Spastic gait
Babinski sign
Spasticity, lower limb
Tip-toe gait
Show more (+1)
n.a.
p.Arg217*: hom