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.
|
|
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.
|
|
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.
|