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
|
Impaired vibratory sensation
Lower limb muscle weakness Hyperreflexia in upper limbs Cognitive impairment Spasticity, upper limb Spasticity, lower limb Ophthalmoplegia Muscle weakness, upper limb Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
GBR
|
n.a.
|
31
|
No
|
Hyperreflexia in upper limbs
Ataxia, limb Spasticity, lower limb Lower limb muscle weakness Impaired vibratory sensation Show more (+2) |
n.a.
|
|
Yes
|
♀
|
C
|
GBR
|
n.a.
|
25
|
No
|
Cognitive impairment
Spasticity, lower limb |
n.a.
|
|
Yes
|
♀
|
C
|
GBR
|
n.a.
|
55
|
No
|
Impaired vibratory sensation
Spasticity, lower limb Hyperreflexia in upper limbs Cognitive impairment Lower limb muscle weakness Ophthalmoplegia Show more (+3) |
n.a.
|
|
Yes
|
♀
|
C
|
GBR
|
n.a.
|
55
|
No
|
Lower limb muscle weakness
Impaired vibratory sensation Hyperreflexia in upper limbs Spasticity, lower limb 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
|
Ophthalmoplegia
Spasticity, lower limb |
n.a.
|
|
Yes
|
♂
|
C
|
GBR
|
n.a.
|
65
|
No
|
Spasticity, upper limb
Spasticity, lower limb Walking aids Impaired vibratory sensation Cognitive impairment Lower limb muscle weakness Show more (+3) |
n.a.
|
|
Yes
|
♀
|
C
|
GBR
|
n.a.
|
50
|
No
|
Impaired vibratory sensation
Spasticity, lower limb Lower limb muscle weakness |
n.a.
|