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