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