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