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