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.
Tip-toe gait
Spastic gait
Babinski sign
Spasticity, lower limb
Cognitive impairment
Show more (+2)
n.a.
p.Arg217*: hom
Yes
♂
B
n.a.
8
15
n.a.
Walking aids
Abnormality of the bladder
Tip-toe gait
Cognitive impairment
Spastic gait
Babinski sign
Ataxia, limb
Hyperreflexia in upper limbs
Spasticity, lower limb
Lower limb muscle weakness
Muscle weakness, upper limb
Upper limb amyotrophy
Peripheral neuropathy on nerve conduction studies
Impaired vibratory sensation
Show more (+11)
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