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