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