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