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