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