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