| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
DNK
|
60
|
79
|
n.a.
|
Babinski sign
Cognitive impairment Spasticity, lower limb Lower limb muscle weakness Spastic gait Inability to walk Nystagmus Ataxia, limb Gait ataxia Wheelchair Dysarthria Cerebellar atrophy Show more (+9) |
n.a.
|
|
No
|
♂
|
C
|
DNK
|
25
|
39
|
n.a.
|
Ataxia, limb
Spastic gait Cerebellar atrophy Babinski sign Abnormality of the bladder Spasticity, lower limb Gait ataxia Dysarthria Show more (+5) |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
n.a.
|
81
|
n.a.
|
Muscle weakness, upper limb
Lower limb muscle weakness Inability to walk Hyperreflexia in upper limbs Spasticity, lower limb Wheelchair Show more (+3) |
n.a.
|
|
Yes
|
♂
|
C
|
DNK
|
30
|
44
|
n.a.
|
Cerebellar atrophy
Ataxia, limb Dysarthria Spasticity, lower limb -Lower limb amyotrophy Babinski sign Seizures Hyperreflexia in upper limbs Nystagmus Lower limb muscle weakness Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
DNK
|
7
|
43
|
n.a.
|
Lower limb muscle weakness
Abnormality of the bladder Hyperreflexia in upper limbs Spasticity, lower limb Nystagmus Impaired vibratory sensation Ataxia, limb Babinski sign Dysarthria Show more (+6) |
n.a.
|