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