Nielsen, 2004: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
DNK
60
79
n.a.
Babinski sign
Nystagmus
Cognitive impairment
Dysarthria
Lower limb muscle weakness
Gait ataxia
Wheelchair
Cerebellar atrophy
Inability to walk
Spasticity, lower limb
Ataxia, limb
Spastic gait
Show more (+9)
n.a.
p.Gln490*: het
No
C
DNK
25
39
n.a.
Gait ataxia
Cerebellar atrophy
Abnormality of the bladder
Babinski sign
Spasticity, lower limb
Ataxia, limb
Spastic gait
Dysarthria
Show more (+5)
n.a.
p.Gln490*: het
No
C
DNK
n.a.
81
n.a.
Wheelchair
Lower limb muscle weakness
Spasticity, lower limb
Inability to walk
Hyperreflexia in upper limbs
Muscle weakness, upper limb
Show more (+3)
n.a.
p.Gln490*: het
Yes
C
DNK
30
44
n.a.
Lower limb muscle weakness
Hyperreflexia in upper limbs
Cerebellar atrophy
Seizures
Babinski sign
Spasticity, lower limb
-Lower limb amyotrophy
Ataxia, limb
Nystagmus
Dysarthria
Show more (+7)
n.a.
p.Gln490*: het
No
C
DNK
7
43
n.a.
Hyperreflexia in upper limbs
Impaired vibratory sensation
Ataxia, limb
Spasticity, lower limb
Nystagmus
Dysarthria
Lower limb muscle weakness
Abnormality of the bladder
Babinski sign
Show more (+6)
n.a.
p.Gln490*: het