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