Guthrie, 2013: Overview of all reported HSP-SPAST patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
GBR
n.a.
29
No
Lower limb muscle weakness
Ophthalmoplegia
Impaired vibratory sensation
Muscle weakness, upper limb
Hyperreflexia in upper limbs
Spasticity, lower limb
Spasticity, upper limb
Cognitive impairment
Show more (+5)
n.a.
Yes
C
GBR
n.a.
31
No
Hyperreflexia in upper limbs
Lower limb muscle weakness
Spasticity, lower limb
Impaired vibratory sensation
Ataxia, limb
Show more (+2)
n.a.
p.Ser245*: het
Yes
C
GBR
n.a.
25
No
Cognitive impairment
Spasticity, lower limb
n.a.
Yes
C
GBR
n.a.
55
No
Hyperreflexia in upper limbs
Impaired vibratory sensation
Spasticity, lower limb
Lower limb muscle weakness
Ophthalmoplegia
Cognitive impairment
Show more (+3)
n.a.
Yes
C
GBR
n.a.
55
No
Hyperreflexia in upper limbs
Lower limb muscle weakness
Spasticity, lower limb
Impaired vibratory sensation
Show more (+1)
n.a.
Yes
C
GBR
n.a.
49
No
Lower limb muscle weakness
Spasticity, lower limb
n.a.
Yes
C
GBR
n.a.
72
No
n.a.
n.a.
Yes
C
GBR
n.a.
53
No
Spasticity, lower limb
Ophthalmoplegia
n.a.
p.Ser245*: het
Yes
C
GBR
n.a.
65
No
Spasticity, upper limb
Cognitive impairment
Impaired vibratory sensation
Walking aids
Spasticity, lower limb
Lower limb muscle weakness
Show more (+3)
n.a.
Yes
C
GBR
n.a.
50
No
Lower limb muscle weakness
Spasticity, lower limb
Impaired vibratory sensation
n.a.