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