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