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