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