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