| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
O
|
AUS
|
25
|
n.a.
|
n.a.
|
Impaired vibratory sensation
Lower limb muscle weakness -Pure or uncomplicated Spasticity, lower limb Walking aids Spastic gait Hyperreflexia in upper limbs Abnormality of the bladder -Lower limb amyotrophy Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
20
|
54
|
n.a.
|
Walking aids
-Pure or uncomplicated Abnormality of the bladder Spastic gait Babinski sign Spasticity, lower limb Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
4
|
73
|
n.a.
|
Lower limb muscle weakness
Babinski sign Spastic gait -Pure or uncomplicated -Lower limb amyotrophy Walking aids Hyperreflexia in upper limbs Impaired vibratory sensation Spasticity, lower limb Abnormality of the bladder Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
41
|
65
|
n.a.
|
Walking aids
Babinski sign Spastic gait Spasticity, lower limb Hyperreflexia in upper limbs Muscle weakness, upper limb Wheelchair -Pure or uncomplicated Lower limb muscle weakness Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
2
|
48
|
n.a.
|
Spasticity, lower limb
Babinski sign Wheelchair Muscle weakness, upper limb Hyperreflexia in upper limbs Impaired vibratory sensation Spastic gait Lower limb muscle weakness Abnormality of the bladder Walking aids Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
2
|
60
|
n.a.
|
-Pure or uncomplicated
Hyperreflexia in upper limbs Lower limb muscle weakness Spasticity, lower limb Impaired vibratory sensation Abnormality of the bladder Spastic gait Walking aids Babinski sign Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
n.a.
|
55
|
n.a.
|
-Pure or uncomplicated
Impaired vibratory sensation Abnormality of the bladder Spasticity, lower limb Lower limb muscle weakness Hyperreflexia in upper limbs Babinski sign Spastic gait Walking aids Show more (+6) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
32
|
38
|
n.a.
|
Spastic gait
-Pure or uncomplicated Hyperreflexia in upper limbs Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
10
|
48
|
n.a.
|
Ataxia, limb
Lower limb muscle weakness Impaired vibratory sensation Spasticity, upper limb Hyperreflexia in upper limbs Babinski sign Abnormality of the bladder Spastic gait Walking aids Spasticity, lower limb Show more (+7) |
n.a.
|
|
Yes
|
n.a.
|
O
|
AUS
|
n.a.
|
n.a.
|
n.a.
|
Spastic gait
Babinski sign Spasticity, lower limb -Lower limb amyotrophy -Pure or uncomplicated Lower limb muscle weakness Walking aids Hyperreflexia in upper limbs Show more (+5) |
n.a.
|