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