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