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
Cognitive impairment
Spasticity, lower limb
Lower limb muscle weakness
Spastic gait
Inability to walk
Nystagmus
Ataxia, limb
Gait ataxia
Wheelchair
Dysarthria
Cerebellar atrophy
Show more (+9)
n.a.
p.Gln490*: het
No
C
DNK
25
39
n.a.
Ataxia, limb
Spastic gait
Cerebellar atrophy
Babinski sign
Abnormality of the bladder
Spasticity, lower limb
Gait ataxia
Dysarthria
Show more (+5)
n.a.
p.Gln490*: het
No
C
DNK
n.a.
81
n.a.
Muscle weakness, upper limb
Lower limb muscle weakness
Inability to walk
Hyperreflexia in upper limbs
Spasticity, lower limb
Wheelchair
Show more (+3)
n.a.
p.Gln490*: het
Yes
C
DNK
30
44
n.a.
Cerebellar atrophy
Ataxia, limb
Dysarthria
Spasticity, lower limb
-Lower limb amyotrophy
Babinski sign
Seizures
Hyperreflexia in upper limbs
Nystagmus
Lower limb muscle weakness
Show more (+7)
n.a.
p.Gln490*: het
No
C
DNK
7
43
n.a.
Lower limb muscle weakness
Abnormality of the bladder
Hyperreflexia in upper limbs
Spasticity, lower limb
Nystagmus
Impaired vibratory sensation
Ataxia, limb
Babinski sign
Dysarthria
Show more (+6)
n.a.
p.Gln490*: het