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